{"id":7621,"date":"2024-09-26T11:48:29","date_gmt":"2024-09-26T11:48:29","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=7621"},"modified":"2025-03-09T19:20:31","modified_gmt":"2025-03-09T19:20:31","slug":"enfermedades-monogeneticas-en-genereviews","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/enfermedades-monogeneticas-en-genereviews\/","title":{"rendered":"Tabla de enfermedades en genereviews."},"content":{"rendered":"\n\n\n\n\t\n\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t\n\t
15q13.3 Recurrent Deletion<\/th>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mdel15q13_3\/<\/th>CNV<\/th>\n<\/tr>\n<\/thead>\n
16p11.2 Recurrent Deletion<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/del16p11_2\/<\/td>CNV<\/td>\n<\/tr>\n
16p12.2 Recurrent Deletion<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mdel16p12_2\/<\/td>CNV<\/td>\n<\/tr>\n
17q12 Recurrent Deletion Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mdel17q12\/<\/td>CNV<\/td>\n<\/tr>\n
17q12 Recurrent Duplication<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dup17q12\/<\/td>CNV<\/td>\n<\/tr>\n
1q21.1 Recurrent Deletion<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mdel1q21_1\/<\/td>CNV<\/td>\n<\/tr>\n
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cah\/<\/td>CNV<\/td>\n<\/tr>\n
22q11.2 Deletion Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gr_22q11deletion\/<\/td>CNV<\/td>\n<\/tr>\n
3q29 Recurrent Deletion<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mdel3q29\/<\/td>CNV<\/td>\n<\/tr>\n
7q11.23 Duplication Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dup7q11_23\/<\/td>CNV<\/td>\n<\/tr>\n
Abetalipoproteinemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ab-lipo-p\/<\/td>Enfermedad metab\u00f3lica<\/td>\n<\/tr>\n
Aceruloplasminemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/acp\/<\/td>Enfermedad metab\u00f3lica<\/td>\n<\/tr>\n
Achondrogenesis Type 1B<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/achon1b\/<\/td><\/td>\n<\/tr>\n
Achondroplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/achondroplasia\/<\/td><\/td>\n<\/tr>\n
Achromatopsia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/achm\/<\/td>Oftalmol\u00f3gica<\/td>\n<\/tr>\n
Acid Sphingomyelinase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/npab\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
ACTG2\u00a0Visceral Myopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/actg2-dis\/<\/td><\/td>\n<\/tr>\n
Acute Intermittent Porphyria<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/aip\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
ADAMTSL4-Related Eye Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/adamtsl4-eyes\/<\/td>Oftalmol\u00f3gica<\/td>\n<\/tr>\n
ADCY5\u00a0Dyskinesia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/adcy5-dysk\/<\/td><\/td>\n<\/tr>\n
Adenine Phosphoribosyltransferase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/aprt-def\/<\/td>Enfermedad metab\u00f3lica<\/td>\n<\/tr>\n
Adenosine Deaminase 2 Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ada2-def\/<\/td>Enfermedad autoinflamatoria o inmunodeficiencia<\/td>\n<\/tr>\n
Adenosine Deaminase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ada\/<\/td>Enfermedad autoinflamatoria o inmunodeficiencia<\/td>\n<\/tr>\n
ADNP-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/adnp-dis\/<\/td><\/td>\n<\/tr>\n
Adult Refsum Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/refsum\/<\/td>Enfermedad metab\u00f3lica<\/td>\n<\/tr>\n
Aicardi Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/aic\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Aicardi-Gouti\u00e8res Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ags\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
AIP\u00a0Familial Isolated Pituitary Adenomas<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ipa\/<\/td>Oncol\u00f3gica<\/td>\n<\/tr>\n
Alagille Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/alagille\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
Alexander Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/alexander\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Alkaptonuria<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/alkap\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
ALK-Related Neuroblastic Tumor Susceptibility<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/alk-nbs\/<\/td>Oncol\u00f3gica<\/td>\n<\/tr>\n
Allan-Herndon-Dudley Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/thctd\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Alpha-1 Antitrypsin Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/alpha1-a\/<\/td>Neumol\u00f3gica<\/td>\n<\/tr>\n
Alpha-Mannosidosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/a-mannosidosis\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Alpha-Thalassemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/a-thal\/<\/td>Hematol\u00f3gica<\/td>\n<\/tr>\n
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/xlmr\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
ALPK1-Related Autoinflammatory Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/alpk1-auto\/<\/td>Autoinflamatoria y inmunodeficiencias<\/td>\n<\/tr>\n
Alport Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/alport\/<\/td>Nefrol\u00f3gica<\/td>\n<\/tr>\n
ALS2-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/iahsp\/<\/td><\/td>\n<\/tr>\n
Alstr\u00f6m Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/alstrom\/<\/td><\/td>\n<\/tr>\n
Alzheimer Disease Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/alzheimer\/<\/td><\/td>\n<\/tr>\n
Amyotrophic Lateral Sclerosis Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/als-overview\/<\/td>Neurol\u00f3gica<\/td>\n<\/tr>\n
Andersen-Tawil Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/acpp\/<\/td>Cardiol\u00f3gica<\/td>\n<\/tr>\n
Androgen Insensitivity Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/androgen\/<\/td>Endocrinol\u00f3gica<\/td>\n<\/tr>\n
Angelman Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/angelman\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
ANKRD17-Related Neurodevelopmental Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ankrd17-nds\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
ANKRD26-Related Thrombocytopenia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ankrd26\/<\/td>Hematol\u00f3gica<\/td>\n<\/tr>\n
ANO5\u00a0Muscle Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ano5-md\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
AP-4-Associated Hereditary Spastic Paraplegia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ap4-def\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
APC-Associated Polyposis Conditions<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fap\/<\/td>Oncol\u00f3gica<\/td>\n<\/tr>\n
Apert Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/apert\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
APOB-Related Familial Hypobetalipoproteinemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/apob-hbl\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Arginase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/arg1\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Argininosuccinate Lyase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/args-aciduria\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
ARID1B-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/arid1b-dis\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Aromatic L-Amino Acid Decarboxylase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/aadc-def\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Arrhythmogenic Right Ventricular Cardiomyopathy Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/arvd\/<\/td>Cardiol\u00f3gica<\/td>\n<\/tr>\n
ARSACS<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/arsacs\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Arterial Tortuosity Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/arterial-t\/<\/td>Cardiol\u00f3gica<\/td>\n<\/tr>\n
Arylsulfatase A Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mld\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
ASAH1-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/asah1\/<\/td><\/td>\n<\/tr>\n
Asparagine Synthetase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/as-def\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Aspartylglucosaminuria<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/agu\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
ASPM\u00a0Primary Microcephaly<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/aspm-pm\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
ASXL3-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/asxl3\/<\/td><\/td>\n<\/tr>\n
Ataxia with Oculomotor Apraxia Type 2<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/aoa2\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Ataxia with Vitamin E Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/aved\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Ataxia-Telangiectasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ataxia-telangiectas\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
ATN1-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/atn1-ndd\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
ATP1A3-Related Neurologic Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rapid-odp\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
ATP6V0A2-Related Cutis Laxa<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cutis-laxa\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
ATP7A-Related Copper Transport Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/menkes\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
ATP8B1 Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pfic\/<\/td><\/td>\n<\/tr>\n
Au-Kline Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/au-kline\/<\/td><\/td>\n<\/tr>\n
Autoimmune Lymphoproliferative Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/alps\/<\/td>Autoinflamatoria y Inmunodeficiencias<\/td>\n<\/tr>\n
Autosomal Dominant Epilepsy with Auditory Features<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/peaf\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Autosomal Dominant Robinow Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rob-ad\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/adnfle\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Autosomal Dominant Tubulointerstitial Kidney Disease \u2013\u00a0MUC1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mckd1\/<\/td>Nefrol\u00f3gica<\/td>\n<\/tr>\n
Autosomal Dominant Tubulointerstitial Kidney Disease \u2013\u00a0REN<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hyper-nfj2\/<\/td>Nefrol\u00f3gica<\/td>\n<\/tr>\n
Autosomal Dominant Tubulointerstitial Kidney Disease \u2013\u00a0UMOD<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mckd2\/<\/td>Nefrol\u00f3gica<\/td>\n<\/tr>\n
Autosomal Dominant\u00a0TRPV4\u00a0Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cmt2c\/<\/td><\/td>\n<\/tr>\n
Autosomal Recessive Congenital Ichthyosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/li-ar\/<\/td>Dermatol\u00f3gica<\/td>\n<\/tr>\n
Autosomal Recessive Polycystic Kidney Disease\u00a0\u2013\u00a0PKHD1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pkd-ar\/<\/td>Nefrol\u00f3gica<\/td>\n<\/tr>\n
Aym\u00e9-Gripp Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ayme-gripp\/<\/td><\/td>\n<\/tr>\n
Bachmann-Bupp Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bachmann-bupp\/<\/td><\/td>\n<\/tr>\n
Baller-Gerold Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bgs\/<\/td><\/td>\n<\/tr>\n
BAP1\u00a0Tumor Predisposition Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bap1-tpds\/<\/td>Oncol\u00f3gica<\/td>\n<\/tr>\n
Baraitser-Winter Cerebrofrontofacial Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/baraitser-winter\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
Bardet-Biedl Syndrome Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bbs\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Barth Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/barth\/<\/td>Nefrol\u00f3gica<\/td>\n<\/tr>\n
BCL11A-Related Intellectual Disability<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bcl11a-id\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Beckwith-Wiedemann Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bws\/<\/td>Sindr\u00f3mcia<\/td>\n<\/tr>\n
Berardinelli-Seip Congenital Lipodystrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bscl\/<\/td><\/td>\n<\/tr>\n
Bestrophinopathies<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bvd\/<\/td><\/td>\n<\/tr>\n
Beta-Propeller Protein-Associated Neurodegeneration<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bpan\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Beta-Thalassemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/b-thal\/<\/td>Hematol\u00f3gica<\/td>\n<\/tr>\n
Bietti Crystalline Dystrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bietti-cd\/<\/td><\/td>\n<\/tr>\n
Biotinidase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/biotin\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Biotin-Thiamine-Responsive Basal Ganglia Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bgd-biotin\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Birt-Hogg-Dub\u00e9 Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bhd\/<\/td><\/td>\n<\/tr>\n
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bpes\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
Bloom Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bloom\/<\/td>Oncol\u00f3gica<\/td>\n<\/tr>\n
Bohring-Opitz Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bohring-opitz\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
Branchiooculofacial Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bofs\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
Branchiootorenal Spectrum Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bor\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
BRCA1-\u00a0and\u00a0BRCA2-Associated Hereditary Breast and Ovarian Cancer<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/brca1\/<\/td>Oncol\u00f3gica<\/td>\n<\/tr>\n
Brugada Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/brugada\/<\/td>Cardiol\u00f3gica<\/td>\n<\/tr>\n
Bryant-Li-Bhoj Neurodevelopmental Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/brylib\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
BSCL2-Related Neurologic Disorders\u00a0\/ Seipinopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/spg17\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
C3 Glomerulopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mpgn\/<\/td>Nefrol\u00f3gica<\/td>\n<\/tr>\n
C9orf72\u00a0Frontotemporal Dementia and\/or Amyotrophic Lateral Sclerosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/als-ftd\/<\/td>Neurol\u00f3gica<\/td>\n<\/tr>\n
CACNA1C-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/timothy\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
CADASIL<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cadasil\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Caffey Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/caffey\/<\/td><\/td>\n<\/tr>\n
Calpainopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lgmd2a\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Campomelic Dysplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/campo-dysp\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
Camurati-Engelmann Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ced\/<\/td><\/td>\n<\/tr>\n
Canavan Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/canavan\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Cant\u00fa Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cantu\/<\/td><\/td>\n<\/tr>\n
Capillary Malformation-Arteriovenous Malformation Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rasa1-rel-dis\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Carbonic Anhydrase VA Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ca5a-def\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Cardiofaciocutaneous Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cfc\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
Carney Complex<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/carney\/<\/td>Oncol\u00f3gica<\/td>\n<\/tr>\n
Carnitine Palmitoyltransferase 1A Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cpt1a\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Carnitine Palmitoyltransferase II Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cpt2\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Carnitine-Acylcarnitine Translocase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cact-def\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Cartilage-Hair Hypoplasia \u2013 Anauxetic Dysplasia Spectrum Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/chh\/<\/td>Dermatol\u00f3gica<\/td>\n<\/tr>\n
CASK\u00a0Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cask-dis\/<\/td><\/td>\n<\/tr>\n
Catecholaminergic Polymorphic Ventricular Tachycardia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cvt\/<\/td>Cardiol\u00f3gica<\/td>\n<\/tr>\n
CDC73-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hrpt2\/<\/td><\/td>\n<\/tr>\n
CDK13-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cdk13-dis\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
CDKL5 Deficiency Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cdkl5-def\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
CEBPA-Associated Familial Acute Myeloid Leukemia (AML)<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cebpa-aml\/<\/td>Oncol\u00f3gica<\/td>\n<\/tr>\n
Celiac Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/celiac\/<\/td>Gastroenterol\u00f3gica<\/td>\n<\/tr>\n
Cerebrotendinous Xanthomatosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ctx\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Char Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/char\/<\/td><\/td>\n<\/tr>\n
Charcot-Marie-Tooth Hereditary Neuropathy Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cmt\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
CHCHD10-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/chchd10-dis\/<\/td><\/td>\n<\/tr>\n
CHD2-Related Neurodevelopmental Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/chd2-dis\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
CHD4\u00a0Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/chd4-ndd\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
CHD7\u00a0Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/charge\/<\/td><\/td>\n<\/tr>\n
CHD8-Related Neurodevelopmental Disorder with Overgrowth<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/chd8-ndd-og\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Chediak-Higashi Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/chediak-higashi\/<\/td>Autoinflamatorias y Inmunodeficiencias<\/td>\n<\/tr>\n
Cherubism<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cherubism\/<\/td><\/td>\n<\/tr>\n
Childhood Ataxia with Central Nervous System Hypomyelination \/ Vanishing White Matter<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cach\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
CHKB-Related Muscular Dystrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/chkb-md\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
CHMP2B\u00a0Frontotemporal Dementia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ftd-chmp2b\/<\/td>Neurol\u00f3gica<\/td>\n<\/tr>\n
Chondrodysplasia Punctata 1, X-Linked<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cdp1-xlr\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Chondrodysplasia Punctata 2, X-Linked<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/x-dcdp\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Chondrodysplasia with Congenital Joint Dislocations,\u00a0CHST3-Related<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cd-chst3\/<\/td><\/td>\n<\/tr>\n
Choroideremia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/choroid\/<\/td>Oftalmol\u00f3gica<\/td>\n<\/tr>\n
Christianson Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/christianson\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Chronic Granulomatous Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cgd\/<\/td>Autoinflamatorias y inmunodeficiencias<\/td>\n<\/tr>\n
Chylomicron Retention Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cmr\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Citrin Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/citrin\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Citrullinemia Type I<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ctlm\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Classic Ehlers-Danlos Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/eds\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
Classic Galactosemia and Clinical Variant Galactosemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/galactosemia\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Classic Isovaleric Acidemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/isovaleric-a\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
CLCN2-Related Leukoencephalopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cc2-leuk\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
CLCN4-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/clcn4-ndd\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
CLCN7-Related Osteopetrosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/clcn7\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Cleidocranial Dysplasia Spectrum Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ccd\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
CLPB Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/clpb-def\/<\/td><\/td>\n<\/tr>\n
Cockayne Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cockayne\/<\/td>Oncol\u00f3gica<\/td>\n<\/tr>\n
Coffin-Siris Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/coffin-siris\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Cohen Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cohen\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
COL1A1\/2\u00a0Osteogenesis Imperfecta<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/oi\/<\/td>Conectivopat\u00eda<\/td>\n<\/tr>\n
COL4A1-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/col4a1-dis\/<\/td>Conectivopat\u00eda<\/td>\n<\/tr>\n
Cold-Induced Sweating Syndrome Including Crisponi Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ciss\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Collagen VI-Related Dystrophies<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bethlem\/<\/td>Conectivopat\u00eda<\/td>\n<\/tr>\n
Complete Plasminogen Activator Inhibitor 1 Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pai-1-def\/<\/td>Hematol\u00f3gica<\/td>\n<\/tr>\n
COMP-Related Pseudoachondroplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/psach\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
Congenital Central Hypoventilation Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ondine\/<\/td>Neumol\u00f3gica<\/td>\n<\/tr>\n
Congenital Contractural Arachnodactyly<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cca\/<\/td>Conectivopat\u00eda<\/td>\n<\/tr>\n
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/df-lamm\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
Congenital Diaphragmatic Hernia Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cdh-ov\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cdg\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Congenital Dyserythropoietic Anemia Type I<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cda1\/<\/td>Hematol\u00f3gica<\/td>\n<\/tr>\n
Congenital Erythropoietic Porphyria<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cep\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
Congenital Fibrosis of the Extraocular Muscles Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cfeom\/<\/td>Oftalmol\u00f3gica<\/td>\n<\/tr>\n
Congenital Insensitivity to Pain Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cip-overview\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Congenital Mirror Movements<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mirror\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Congenital Myasthenic Syndromes Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cms\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
Congenital NAD Deficiency Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nad-def\/<\/td><\/td>\n<\/tr>\n
Congenital Stromal Corneal Dystrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/csc-dys\/<\/td>Oftalmol\u00f3gica<\/td>\n<\/tr>\n
Cornelia de Lange Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cdls\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
Costeff Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mga3\/<\/td><\/td>\n<\/tr>\n
Cranioectodermal Dysplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ce-dysp\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
Craniometaphyseal Dysplasia, Autosomal Dominant<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cranio-md\/<\/td>Sindr\u00f3mica<\/td>\n<\/tr>\n
Creatine Deficiency Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/creatine\/<\/td>Metab\u00f3lica<\/td>\n<\/tr>\n
CSF1R-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hdls\/<\/td><\/td>\n<\/tr>\n
CSNK2B-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/csnk2b-ndd\/<\/td>Neuropedi\u00e1trica<\/td>\n<\/tr>\n
CTCF-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ctcf-dis\/<\/td><\/td>\n<\/tr>\n
CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ccfdn\/<\/td><\/td>\n<\/tr>\n
CTNNB1\u00a0Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ctnnb1-ndd\/<\/td><\/td>\n<\/tr>\n
CYLD\u00a0Cutaneous Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cyld-cs\/<\/td><\/td>\n<\/tr>\n
Cystic Fibrosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cf\/<\/td><\/td>\n<\/tr>\n
Cystinosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ctns\/<\/td><\/td>\n<\/tr>\n
Cytochrome P450 Oxidoreductase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/abs\/<\/td><\/td>\n<\/tr>\n
Danon Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/danon\/<\/td><\/td>\n<\/tr>\n
DCTN1-Related Neurodegeneration<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/perry\/<\/td><\/td>\n<\/tr>\n
DCX-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dcx\/<\/td><\/td>\n<\/tr>\n
DDX3X-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ddx3x-ndd\/<\/td><\/td>\n<\/tr>\n
DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ddx41-mds\/<\/td><\/td>\n<\/tr>\n
Deafness and Myopia Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dfn-myop\/<\/td><\/td>\n<\/tr>\n
Deafness-Dystonia-Optic Neuronopathy Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ddon\/<\/td><\/td>\n<\/tr>\n
Dent Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dent\/<\/td><\/td>\n<\/tr>\n
Deoxyguanosine Kinase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dguok-mtddepl\/<\/td><\/td>\n<\/tr>\n
DEPDC5-Related Epilepsy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/depdc5-epilepsy\/<\/td><\/td>\n<\/tr>\n
DFNA2 Nonsyndromic Hearing Loss<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dfna2\/<\/td><\/td>\n<\/tr>\n
Diabetes Mellitus, 6q24-Related Transient Neonatal<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dmtn\/<\/td><\/td>\n<\/tr>\n
Diamond-Blackfan Anemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/diamond-b\/<\/td><\/td>\n<\/tr>\n
Diastrophic Dysplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/diastrophic-d\/<\/td><\/td>\n<\/tr>\n
DICER1\u00a0Tumor Predisposition<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pp-blastoma\/<\/td><\/td>\n<\/tr>\n
Dihydrolipoamide Dehydrogenase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dld-def\/<\/td><\/td>\n<\/tr>\n
Dilated Cardiomyopathy Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dcm-ov\/<\/td><\/td>\n<\/tr>\n
Disorders of Intracellular Cobalamin Metabolism<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cbl\/<\/td><\/td>\n<\/tr>\n
Disorders of\u00a0GNAS\u00a0Inactivation<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gnas-dis\/<\/td><\/td>\n<\/tr>\n
DLG4-Related Synaptopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dlg4-synap\/<\/td><\/td>\n<\/tr>\n
DNAJC6\u00a0Parkinson Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dnajc6-pd\/<\/td><\/td>\n<\/tr>\n
DNMT1-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dnmt1-ddsn\/<\/td><\/td>\n<\/tr>\n
Donnai-Barrow Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/donnai\/<\/td><\/td>\n<\/tr>\n
Dopamine Beta-Hydroxylase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dbh\/<\/td><\/td>\n<\/tr>\n
DRPLA<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/drpla\/<\/td><\/td>\n<\/tr>\n
Duane Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/duane\/<\/td><\/td>\n<\/tr>\n
Duarte Variant Galactosemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/duarte-gal\/<\/td><\/td>\n<\/tr>\n
DYNC1H1-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dync1h1-dis\/<\/td><\/td>\n<\/tr>\n
DYRK1A\u00a0Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dyrk1a-id\/<\/td><\/td>\n<\/tr>\n
Dysferlinopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/miyoshi\/<\/td><\/td>\n<\/tr>\n
Dyskeratosis Congenita and Related Telomere Biology Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dkc\/<\/td><\/td>\n<\/tr>\n
Dystrophic Epidermolysis Bullosa<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ebd\/<\/td><\/td>\n<\/tr>\n
Dystrophinopathies<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dbmd\/<\/td><\/td>\n<\/tr>\n
DYT1 Early-Onset Isolated Dystonia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dystonia\/<\/td><\/td>\n<\/tr>\n
DYT-GNAL<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gnal-dystonia\/<\/td><\/td>\n<\/tr>\n
EBF3\u00a0Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ebf3-ndd\/<\/td><\/td>\n<\/tr>\n
EED-Related Overgrowth<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/eed-og\/<\/td><\/td>\n<\/tr>\n
EFEMP2-Related Cutis Laxa<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/efemp2-cutis-laxa\/<\/td><\/td>\n<\/tr>\n
ELANE-Related Neutropenia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cyclic-n\/<\/td><\/td>\n<\/tr>\n
El-Hattab-Alkuraya Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/el-hattab-alkuraya\/<\/td><\/td>\n<\/tr>\n
Ellis-van Creveld Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/evc\/<\/td><\/td>\n<\/tr>\n
ELN-Related Cutis Laxa<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/eln-cutis-laxa\/<\/td><\/td>\n<\/tr>\n
Emanuel Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/emanuel\/<\/td><\/td>\n<\/tr>\n
EMC10-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/emc10-ndd\/<\/td><\/td>\n<\/tr>\n
Emery-Dreifuss Muscular Dystrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/edmd\/<\/td><\/td>\n<\/tr>\n
Encephalocraniocutaneous Lipomatosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/eccl\/<\/td><\/td>\n<\/tr>\n
Enlarged Parietal Foramina<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/msx2\/<\/td><\/td>\n<\/tr>\n
ENTPD1-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/entpd1-ndd\/<\/td><\/td>\n<\/tr>\n
EPB42-Related Hereditary Spherocytosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/epb42-spherocytosis\/<\/td><\/td>\n<\/tr>\n
EPG5-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/epg5\/<\/td><\/td>\n<\/tr>\n
Epidermolysis Bullosa Simplex<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ebs\/<\/td><\/td>\n<\/tr>\n
Epidermolysis Bullosa with Pyloric Atresia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/eb-pa\/<\/td><\/td>\n<\/tr>\n
Epimerase Deficiency Galactosemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gale-def\/<\/td><\/td>\n<\/tr>\n
Episodic Ataxia Type 1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ea1\/<\/td><\/td>\n<\/tr>\n
Erythropoietic Protoporphyria, Autosomal Recessive<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/epp-ar\/<\/td><\/td>\n<\/tr>\n
ESCO2\u00a0Spectrum Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rbs\/<\/td><\/td>\n<\/tr>\n
Ethylmalonic Encephalopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ee\/<\/td><\/td>\n<\/tr>\n
ETV6\u00a0Thrombocytopenia and Predisposition to Leukemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/etv6-tpl\/<\/td><\/td>\n<\/tr>\n
EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/exoc6b-semd\/<\/td><\/td>\n<\/tr>\n
EXOSC3\u00a0Pontocerebellar Hypoplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/exosc3-pc-hypo-p\/<\/td><\/td>\n<\/tr>\n
EZH2-Related Overgrowth<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/weaver\/<\/td><\/td>\n<\/tr>\n
Fabry Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fabry\/<\/td><\/td>\n<\/tr>\n
Facioscapulohumeral Muscular Dystrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fsh\/<\/td><\/td>\n<\/tr>\n
Factor V Leiden Thrombophilia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/factor-v-leiden\/<\/td><\/td>\n<\/tr>\n
FAM111A-Related Skeletal Dysplasias<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fam111a-dysp\/<\/td><\/td>\n<\/tr>\n
Familial Cerebral Cavernous Malformations<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ccm\/<\/td><\/td>\n<\/tr>\n
Familial Combined Hypolipidemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fch\/<\/td><\/td>\n<\/tr>\n
Familial Dysautonomia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fd\/<\/td><\/td>\n<\/tr>\n
Familial Hemiplegic Migraine<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fhm\/<\/td><\/td>\n<\/tr>\n
Familial Hemophagocytic Lymphohistiocytosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hlh\/<\/td><\/td>\n<\/tr>\n
Familial Hypercholesterolemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hyperchol\/<\/td><\/td>\n<\/tr>\n
Familial Hyperinsulinism<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hi\/<\/td><\/td>\n<\/tr>\n
Familial Lipoprotein Lipase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lpl\/<\/td><\/td>\n<\/tr>\n
Familial Mediterranean Fever<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fmf\/<\/td><\/td>\n<\/tr>\n
Familial Paroxysmal Nonkinesigenic Dyskinesia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pnknd\/<\/td><\/td>\n<\/tr>\n
Familial Porphyria Cutanea Tarda<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/porphyria-ct\/<\/td><\/td>\n<\/tr>\n
Fanconi Anemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fa\/<\/td><\/td>\n<\/tr>\n
FARS2 Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fars2-def\/<\/td><\/td>\n<\/tr>\n
Fatty Acid Hydroxylase-Associated Neurodegeneration<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fahn\/<\/td><\/td>\n<\/tr>\n
FBLN5-Related Cutis Laxa<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fbln5-cutis-laxa\/<\/td><\/td>\n<\/tr>\n
FBN1-Related Marfan Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/marfan\/<\/td><\/td>\n<\/tr>\n
FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fbxl4-mtddepl\/<\/td><\/td>\n<\/tr>\n
Feingold Syndrome 1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/feingold\/<\/td><\/td>\n<\/tr>\n
FGFR\u00a0Craniosynostosis Syndromes Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/craniosynostosis\/<\/td><\/td>\n<\/tr>\n
FGFR1-Related Hartsfield Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hartsfield\/<\/td><\/td>\n<\/tr>\n
FH\u00a0Tumor Predisposition Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hlrcc\/<\/td><\/td>\n<\/tr>\n
Fibrodysplasia Ossificans Progressiva<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fop\/<\/td><\/td>\n<\/tr>\n
Fibrous Dysplasia\u00a0\/ McCune-Albright Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mccune-albright\/<\/td><\/td>\n<\/tr>\n
FKBP14\u00a0Kyphoscoliotic Ehlers-Danlos Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fkbp14-keds\/<\/td><\/td>\n<\/tr>\n
FLNA Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/x-pvh\/<\/td><\/td>\n<\/tr>\n
FLNB\u00a0Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/flnb-dis\/<\/td><\/td>\n<\/tr>\n
Floating-Harbor Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fhs\/<\/td><\/td>\n<\/tr>\n
FMR1\u00a0Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fragilex\/<\/td><\/td>\n<\/tr>\n
FOLR1-Related Cerebral Folate Transport Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/folr1-cft-def\/<\/td><\/td>\n<\/tr>\n
FOXG1\u00a0Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/foxg1-ndd\/<\/td><\/td>\n<\/tr>\n
FOXP1 Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/foxp1\/<\/td><\/td>\n<\/tr>\n
FOXP2-Related Speech and Language Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/foxp2-sl-dis\/<\/td><\/td>\n<\/tr>\n
Free Sialic Acid Storage Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/issd\/<\/td><\/td>\n<\/tr>\n
FREM1\u00a0Autosomal Recessive Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mota\/<\/td><\/td>\n<\/tr>\n
Friedreich Ataxia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/friedreich\/<\/td><\/td>\n<\/tr>\n
FRMD7-Related Infantile Nystagmus<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/xl-nystag\/<\/td><\/td>\n<\/tr>\n
Fructose-1,6-Bisphosphatase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fructose1-6-def\/<\/td><\/td>\n<\/tr>\n
Fryns Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fryns\/<\/td><\/td>\n<\/tr>\n
Fukuyama Congenital Muscular Dystrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fcmd\/<\/td><\/td>\n<\/tr>\n
Fumarate Hydratase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fum\/<\/td><\/td>\n<\/tr>\n
G6PC3 Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/g6pc3-def\/<\/td><\/td>\n<\/tr>\n
GAA-FGF14-Related Ataxia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fgf14-ataxia\/<\/td><\/td>\n<\/tr>\n
Gabriele-de Vries Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gabriele-devries\/<\/td><\/td>\n<\/tr>\n
GAN-Related Neurodegeneration<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gan\/<\/td><\/td>\n<\/tr>\n
GARS1-Associated Axonal Neuropathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cmt2d\/<\/td><\/td>\n<\/tr>\n
GATA1-Related Cytopenia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gata1\/<\/td><\/td>\n<\/tr>\n
Gaucher Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gaucher\/<\/td><\/td>\n<\/tr>\n
GBE1\u00a0Adult Polyglucosan Body Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/apbd\/<\/td><\/td>\n<\/tr>\n
GDAP1-Related Hereditary Motor and Sensory Neuropathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cmt-4a\/<\/td><\/td>\n<\/tr>\n
Geleophysic Dysplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/geleophys-dysp\/<\/td><\/td>\n<\/tr>\n
Generalized Arterial Calcification of Infancy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gaci\/<\/td><\/td>\n<\/tr>\n
Genetic Atypical Hemolytic-Uremic Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/husa\/<\/td><\/td>\n<\/tr>\n
Genetic Hearing Loss Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/deafness-overview\/<\/td><\/td>\n<\/tr>\n
Genetic Prion Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/prion\/<\/td><\/td>\n<\/tr>\n
Genetic Steroid-Resistant Nephrotic Syndrome Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/srns-ov\/<\/td><\/td>\n<\/tr>\n
GJB1\u00a0Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cmtx\/<\/td><\/td>\n<\/tr>\n
GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dfnb1\/<\/td><\/td>\n<\/tr>\n
GLB1-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gm1-ganglio\/<\/td><\/td>\n<\/tr>\n
GLI3-Related Pallister-Hall Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/phs\/<\/td><\/td>\n<\/tr>\n
Glucose Transporter Type 1 Deficiency Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/glut1\/<\/td><\/td>\n<\/tr>\n
Glutaric Acidemia Type 1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/glutaric-a1\/<\/td><\/td>\n<\/tr>\n
Glycogen Storage Disease Type I<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gsd1\/<\/td><\/td>\n<\/tr>\n
Glycogen Storage Disease Type III<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gsd3\/<\/td><\/td>\n<\/tr>\n
Glycogen Storage Disease Type IV<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gsd4\/<\/td><\/td>\n<\/tr>\n
Glycogen Storage Disease Type V<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gsd5\/<\/td><\/td>\n<\/tr>\n
Glycogen Storage Disease Type VI<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gsd6\/<\/td><\/td>\n<\/tr>\n
GLYT1 Encephalopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/glyt1-dis\/<\/td><\/td>\n<\/tr>\n
GM2 Activator Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gm2a-def\/<\/td><\/td>\n<\/tr>\n
GM3 Synthase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gm3-def\/<\/td><\/td>\n<\/tr>\n
GNAI1-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gnai1-ndd\/<\/td><\/td>\n<\/tr>\n
GNAO1-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gnao1-dis\/<\/td><\/td>\n<\/tr>\n
GNB1\u00a0Encephalopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gnb1-e\/<\/td><\/td>\n<\/tr>\n
GNB5-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gnb5-ndd\/<\/td><\/td>\n<\/tr>\n
GNE\u00a0Myopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ibm\/<\/td><\/td>\n<\/tr>\n
GNPTAB-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ml2\/<\/td><\/td>\n<\/tr>\n
Greig Cephalopolysyndactyly Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gcps\/<\/td><\/td>\n<\/tr>\n
GRIA2-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gria2-ndd\/<\/td><\/td>\n<\/tr>\n
GRIN1-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/grin1-ndd\/<\/td><\/td>\n<\/tr>\n
GRIN2A-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/grin2a-dis\/<\/td><\/td>\n<\/tr>\n
GRIN2B-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/grin2b\/<\/td><\/td>\n<\/tr>\n
GRIN2D-Related Developmental and Epileptic Encephalopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/grin2d-dee\/<\/td><\/td>\n<\/tr>\n
GRN\u00a0Frontotemporal Dementia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ftd-grn\/<\/td><\/td>\n<\/tr>\n
GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/drd\/<\/td><\/td>\n<\/tr>\n
Hand-Foot-Genital Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hfg\/<\/td><\/td>\n<\/tr>\n
Hemophilia A<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hemo-a\/<\/td><\/td>\n<\/tr>\n
Hemophilia B<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hemo-b\/<\/td><\/td>\n<\/tr>\n
Hepatic Veno-Occlusive Disease with Immunodeficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/vodi\/<\/td><\/td>\n<\/tr>\n
Hepatoerythropoietic Porphyria<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hep\/<\/td><\/td>\n<\/tr>\n
Hereditary Ataxia Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ataxias\/<\/td><\/td>\n<\/tr>\n
Hereditary Coproporphyria<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hcp\/<\/td><\/td>\n<\/tr>\n
Hereditary Diffuse Gastric Cancer<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hgc\/<\/td><\/td>\n<\/tr>\n
Hereditary Distal Renal Tubular Acidosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hered-drta\/<\/td><\/td>\n<\/tr>\n
Hereditary Dystonia Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dystonia-ov\/<\/td><\/td>\n<\/tr>\n
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hfpoik-tmp\/<\/td><\/td>\n<\/tr>\n
Hereditary Folate Malabsorption<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/folate-mal\/<\/td><\/td>\n<\/tr>\n
Hereditary Fructose Intolerance<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hfi\/<\/td><\/td>\n<\/tr>\n
Hereditary Hemorrhagic Telangiectasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hht\/<\/td><\/td>\n<\/tr>\n
Hereditary Hyperekplexia Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hyperek\/<\/td><\/td>\n<\/tr>\n
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/accpn\/<\/td><\/td>\n<\/tr>\n
Hereditary Multiple Osteochondromas<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ext\/<\/td><\/td>\n<\/tr>\n
Hereditary Myopathy with Early Respiratory Failure<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hmerf\/<\/td><\/td>\n<\/tr>\n
Hereditary Nephrogenic Diabetes Insipidus<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ndi\/<\/td><\/td>\n<\/tr>\n
Hereditary Neuropathy with Liability to Pressure Palsies<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hnpp\/<\/td><\/td>\n<\/tr>\n
Hereditary Paraganglioma-Pheochromocytoma Syndromes<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/paragangliomas\/<\/td><\/td>\n<\/tr>\n
Hereditary Sensory and Autonomic Neuropathy Type II<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hsan2\/<\/td><\/td>\n<\/tr>\n
Hereditary Spastic Paraplegia Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hsp\/<\/td><\/td>\n<\/tr>\n
Hereditary Transthyretin Amyloidosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tfap\/<\/td><\/td>\n<\/tr>\n
Heritable Pulmonary Arterial Hypertension Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pph\/<\/td><\/td>\n<\/tr>\n
Heritable Thoracic Aortic Disease Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/taa\/<\/td><\/td>\n<\/tr>\n
Hermansky-Pudlak Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hps\/<\/td><\/td>\n<\/tr>\n
HEXA\u00a0Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tay-sachs\/<\/td><\/td>\n<\/tr>\n
HFE-Related Hemochromatosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hemochromatosis\/<\/td><\/td>\n<\/tr>\n
Hidrotic Ectodermal Dysplasia 2<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ed2\/<\/td><\/td>\n<\/tr>\n
HIST1H1E Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/h1-4\/<\/td><\/td>\n<\/tr>\n
HNRNPH2-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hnrnph2-ndd\/<\/td><\/td>\n<\/tr>\n
HNRNPU-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hnrnpu-ndd\/<\/td><\/td>\n<\/tr>\n
Holoprosencephaly Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hpe-overview\/<\/td><\/td>\n<\/tr>\n
Holt-Oram Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hos\/<\/td><\/td>\n<\/tr>\n
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/homocystinuria\/<\/td><\/td>\n<\/tr>\n
HPRT1\u00a0Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lns\/<\/td><\/td>\n<\/tr>\n
HRAS-Related Costello Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/costello\/<\/td><\/td>\n<\/tr>\n
HTRA1\u00a0Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/carasil\/<\/td><\/td>\n<\/tr>\n
Huntington Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/huntington\/<\/td><\/td>\n<\/tr>\n
Huntington Disease-Like 2<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hd-l2\/<\/td><\/td>\n<\/tr>\n
Huppke-Brendel Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/huppke-brendel\/<\/td><\/td>\n<\/tr>\n
Hutchinson-Gilford Progeria Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hgps\/<\/td><\/td>\n<\/tr>\n
HYAL2 Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hyal2-def\/<\/td><\/td>\n<\/tr>\n
Hyaline Fibromatosis Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sys-h\/<\/td><\/td>\n<\/tr>\n
Hyperkalemic Periodic Paralysis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hyper-pp\/<\/td><\/td>\n<\/tr>\n
Hypermanganesemia with Dystonia 1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hmdpc\/<\/td><\/td>\n<\/tr>\n
Hypermobile Ehlers-Danlos Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/eds3\/<\/td><\/td>\n<\/tr>\n
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hhhs\/<\/td><\/td>\n<\/tr>\n
Hyperphosphatemic Familial Tumoral Calcinosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hyper-ftc\/<\/td><\/td>\n<\/tr>\n
Hypertrophic Cardiomyopathy Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hyper-card\/<\/td><\/td>\n<\/tr>\n
Hypochondroplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hypochondroplasia\/<\/td><\/td>\n<\/tr>\n
Hypohidrotic Ectodermal Dysplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/x-hed\/<\/td><\/td>\n<\/tr>\n
Hypokalemic Periodic Paralysis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hpp\/<\/td><\/td>\n<\/tr>\n
Hypomyelination and Congenital Cataract<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hypo-mcc\/<\/td><\/td>\n<\/tr>\n
Hypophosphatasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hops\/<\/td><\/td>\n<\/tr>\n
IMAGe Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/image\/<\/td><\/td>\n<\/tr>\n
Inclusion Body Myopathy with Paget Disease of Bone and\/or Frontotemporal Dementia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ibmpfd\/<\/td><\/td>\n<\/tr>\n
Incontinentia Pigmenti<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/i-p\/<\/td><\/td>\n<\/tr>\n
INSR-Related Severe Insulin Resistance Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/insr-ir\/<\/td><\/td>\n<\/tr>\n
IPEX Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ipex\/<\/td><\/td>\n<\/tr>\n
IRF6-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/vws\/<\/td><\/td>\n<\/tr>\n
ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/isca1-mmds\/<\/td><\/td>\n<\/tr>\n
ISCA2-Related Mitochondrial Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/isca2-mt-dis\/<\/td><\/td>\n<\/tr>\n
Isolated and Classic Cutis Marmorata Telangiectatica Congenita<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cmtc\/<\/td><\/td>\n<\/tr>\n
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/kms\/<\/td><\/td>\n<\/tr>\n
Isolated Methylmalonic Acidemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mma\/<\/td><\/td>\n<\/tr>\n
Isolated Sulfite Oxidase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/iso-def\/<\/td><\/td>\n<\/tr>\n
Jervell and Lange-Nielsen Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/jln\/<\/td><\/td>\n<\/tr>\n
Joubert Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/joubert\/<\/td><\/td>\n<\/tr>\n
Junctional Epidermolysis Bullosa<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ebj\/<\/td><\/td>\n<\/tr>\n
Juvenile Hemochromatosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/jh\/<\/td><\/td>\n<\/tr>\n
Juvenile Polyposis Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/jps\/<\/td><\/td>\n<\/tr>\n
Kabuki Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/kabuki\/<\/td><\/td>\n<\/tr>\n
KAT6B\u00a0Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/kat6b-dis\/<\/td><\/td>\n<\/tr>\n
Kaufman Oculocerebrofacial Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/kos\/<\/td><\/td>\n<\/tr>\n
KBG Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/kbgs\/<\/td><\/td>\n<\/tr>\n
KCNK9\u00a0Imprinting Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/kcnk9-is\/<\/td><\/td>\n<\/tr>\n
KCNQ2-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bfns\/<\/td><\/td>\n<\/tr>\n
KCNQ3-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/kcnq3-dis\/<\/td><\/td>\n<\/tr>\n
KCNT1-Related Epilepsy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/kcnt1-epilepsy\/<\/td><\/td>\n<\/tr>\n
Kindler Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/kindler\/<\/td><\/td>\n<\/tr>\n
Kleefstra Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/kleefstra\/<\/td><\/td>\n<\/tr>\n
KMT2B-Related Dystonia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/kmt2b-dystonia\/<\/td><\/td>\n<\/tr>\n
KMT2E-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/kmt2e-ndd\/<\/td><\/td>\n<\/tr>\n
Koolen-de Vries Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mdel17q21_31\/<\/td><\/td>\n<\/tr>\n
KPTN-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/kptn-dis\/<\/td><\/td>\n<\/tr>\n
Krabbe Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/krabbe\/<\/td><\/td>\n<\/tr>\n
L1 Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/l1cam\/<\/td><\/td>\n<\/tr>\n
Laing Distal Myopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mpd1\/<\/td><\/td>\n<\/tr>\n
LAMA2\u00a0Muscular Dystrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mdef-cmd\/<\/td><\/td>\n<\/tr>\n
Lathosterolosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lathosterolosis\/<\/td><\/td>\n<\/tr>\n
Leber Congenital Amaurosis\u00a0\/ Early-Onset Severe Retinal Dystrophy Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lca-ov\/<\/td><\/td>\n<\/tr>\n
Leber Hereditary Optic Neuropathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lhon\/<\/td><\/td>\n<\/tr>\n
Legius Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/legius\/<\/td><\/td>\n<\/tr>\n
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lbsl\/<\/td><\/td>\n<\/tr>\n
Li-Fraumeni Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/li-fraumeni\/<\/td><\/td>\n<\/tr>\n
Lipoid Proteinosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lipoid-p\/<\/td><\/td>\n<\/tr>\n
LMNA-Related Dilated Cardiomyopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dcm-lmna\/<\/td><\/td>\n<\/tr>\n
LMNB1-Related Autosomal Dominant Leukodystrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lad-ad\/<\/td><\/td>\n<\/tr>\n
Loeys-Dietz Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/loeys-dietz\/<\/td><\/td>\n<\/tr>\n
Long QT Syndrome Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rws\/<\/td><\/td>\n<\/tr>\n
Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency\u00a0\/ Trifunctional Protein Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lchad\/<\/td><\/td>\n<\/tr>\n
Lowe Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lowe\/<\/td><\/td>\n<\/tr>\n
LPIN2-Related Majeed Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lpin2-majeed\/<\/td><\/td>\n<\/tr>\n
LRRK2\u00a0Parkinson Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lrrk2\/<\/td><\/td>\n<\/tr>\n
LTBP4-Related Cutis Laxa<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ltbp4-cutis-laxa\/<\/td><\/td>\n<\/tr>\n
Lymphedema-Distichiasis Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lds\/<\/td><\/td>\n<\/tr>\n
Lynch Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hnpcc\/<\/td><\/td>\n<\/tr>\n
Lysinuric Protein Intolerance<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lpi\/<\/td><\/td>\n<\/tr>\n
Lysosomal Acid Lipase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lal-def\/<\/td><\/td>\n<\/tr>\n
LZTR1- and\u00a0SMARCB1-Related Schwannomatosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/schwann\/<\/td><\/td>\n<\/tr>\n
Malignant Hyperthermia Susceptibility<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mhs\/<\/td><\/td>\n<\/tr>\n
Mandibulofacial Dysostosis with Microcephaly<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mf-dys-mic\/<\/td><\/td>\n<\/tr>\n
Maple Syrup Urine Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/msud\/<\/td><\/td>\n<\/tr>\n
MAPT-Related Frontotemporal Dementia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ftdp-17\/<\/td><\/td>\n<\/tr>\n
Marinesco-Sj\u00f6gren Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mss\/<\/td><\/td>\n<\/tr>\n
Maternal 15q Duplication Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dup15q\/<\/td><\/td>\n<\/tr>\n
Maturity-Onset Diabetes of the Young Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mody-ov\/<\/td><\/td>\n<\/tr>\n
MBD5\u00a0Haploinsufficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mbd5-dis\/<\/td><\/td>\n<\/tr>\n
MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mbtps1-semd\/<\/td><\/td>\n<\/tr>\n
McKusick-Kaufman Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mkks\/<\/td><\/td>\n<\/tr>\n
McLeod Neuroacanthocytosis Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mcleod\/<\/td><\/td>\n<\/tr>\n
MECP2\u00a0Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rett\/<\/td><\/td>\n<\/tr>\n
MECP2\u00a0Duplication Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mecp2-dup\/<\/td><\/td>\n<\/tr>\n
MECR-Related Neurologic Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mecr-dis\/<\/td><\/td>\n<\/tr>\n
MED12-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/fg\/<\/td><\/td>\n<\/tr>\n
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mcad\/<\/td><\/td>\n<\/tr>\n
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mmihs-ov\/<\/td><\/td>\n<\/tr>\n
Megalencephalic Leukoencephalopathy with Subcortical Cysts<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mlc\/<\/td><\/td>\n<\/tr>\n
MELAS<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/melas\/<\/td><\/td>\n<\/tr>\n
MERRF<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/merrf\/<\/td><\/td>\n<\/tr>\n
MFN2\u00a0Hereditary Motor and Sensory Neuropathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cmt2a\/<\/td><\/td>\n<\/tr>\n
Microcephalic Osteodysplastic Primordial Dwarfism Type II<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mopd2\/<\/td><\/td>\n<\/tr>\n
Microcephaly-Capillary Malformation Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/miccap-ms\/<\/td><\/td>\n<\/tr>\n
Microphthalmia with Linear Skin Defects Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/microph-lsd\/<\/td><\/td>\n<\/tr>\n
MID1-Related Opitz G\/BBB Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/opitz\/<\/td><\/td>\n<\/tr>\n
Milroy Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/milroy\/<\/td><\/td>\n<\/tr>\n
MIRAGE Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mirage\/<\/td><\/td>\n<\/tr>\n
Mitochondrial DNA Maintenance Defects Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mtdna-md-ov\/<\/td><\/td>\n<\/tr>\n
Mitochondrial DNA-Associated Leigh Syndrome Spectrum<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/narp\/<\/td><\/td>\n<\/tr>\n
Mitochondrial Membrane Protein-Associated Neurodegeneration<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mt-mpan\/<\/td><\/td>\n<\/tr>\n
Mitochondrial Neurogastrointestinal Encephalopathy Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mngie\/<\/td><\/td>\n<\/tr>\n
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/echs1-def\/<\/td><\/td>\n<\/tr>\n
MN1\u00a0C-Terminal Truncation Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mn1-ctt\/<\/td><\/td>\n<\/tr>\n
Molybdenum Cofactor Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mc-def\/<\/td><\/td>\n<\/tr>\n
Monosomy 7 Predisposition Syndromes Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/monosomy7-ov\/<\/td><\/td>\n<\/tr>\n
Mowat-Wilson Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mws\/<\/td><\/td>\n<\/tr>\n
MPPH Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mpph\/<\/td><\/td>\n<\/tr>\n
MPV17-Related Mitochondrial DNA Maintenance Defect<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mpv17-mtdep\/<\/td><\/td>\n<\/tr>\n
Mucolipidosis III Gamma<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ml3c\/<\/td><\/td>\n<\/tr>\n
Mucolipidosis IV<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ml4\/<\/td><\/td>\n<\/tr>\n
Mucopolysaccharidosis Type I<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mps1\/<\/td><\/td>\n<\/tr>\n
Mucopolysaccharidosis Type II<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hunter\/<\/td><\/td>\n<\/tr>\n
Mucopolysaccharidosis Type III<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mps3\/<\/td><\/td>\n<\/tr>\n
Mucopolysaccharidosis Type IVA<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mps4a\/<\/td><\/td>\n<\/tr>\n
Mucopolysaccharidosis Type VII<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mps7\/<\/td><\/td>\n<\/tr>\n
Muenke Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/muenke\/<\/td><\/td>\n<\/tr>\n
Multicentric Osteolysis Nodulosis and Arthropathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mona\/<\/td><\/td>\n<\/tr>\n
Multiple Acyl-CoA Dehydrogenase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/madd\/<\/td><\/td>\n<\/tr>\n
Multiple Endocrine Neoplasia Type 1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/men1\/<\/td><\/td>\n<\/tr>\n
Multiple Endocrine Neoplasia Type 2<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/men2\/<\/td><\/td>\n<\/tr>\n
Multiple Endocrine Neoplasia Type 4<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/men4\/<\/td><\/td>\n<\/tr>\n
Multiple Epiphyseal Dysplasia, Autosomal Dominant<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/edm-ad\/<\/td><\/td>\n<\/tr>\n
Multiple Sulfatase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/m-sulfatase-def\/<\/td><\/td>\n<\/tr>\n
MUTYH\u00a0Polyposis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/maps\/<\/td><\/td>\n<\/tr>\n
MYH9-Related Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/myh9\/<\/td><\/td>\n<\/tr>\n
Myhre Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/myhre\/<\/td><\/td>\n<\/tr>\n
Myotonia Congenita<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/myotonia-c\/<\/td><\/td>\n<\/tr>\n
Myotonic Dystrophy Type 1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/myotonic-d\/<\/td><\/td>\n<\/tr>\n
Myotonic Dystrophy Type 2<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/myotonic-d2\/<\/td><\/td>\n<\/tr>\n
MYRF-Related Cardiac Urogenital Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/myrf-cugs\/<\/td><\/td>\n<\/tr>\n
Nail-Patella Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nail-ps\/<\/td><\/td>\n<\/tr>\n
NDP-Related Retinopathies<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/norrie\/<\/td><\/td>\n<\/tr>\n
Nephronophthisis-Related Ciliopathies<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nephron-ov\/<\/td><\/td>\n<\/tr>\n
Neurodegeneration with Brain Iron Accumulation Disorders Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nbia-ov\/<\/td><\/td>\n<\/tr>\n
Neuroferritinopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/neuroferritin\/<\/td><\/td>\n<\/tr>\n
Neurofibromatosis 1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nf1\/<\/td><\/td>\n<\/tr>\n
Nevoid Basal Cell Carcinoma Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bcns\/<\/td><\/td>\n<\/tr>\n
NF2-Related Schwannomatosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nf2\/<\/td><\/td>\n<\/tr>\n
NFIA-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nfia-dis\/<\/td><\/td>\n<\/tr>\n
NFIX-Related Malan Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nfix-malan\/<\/td><\/td>\n<\/tr>\n
NGLY1-Related Congenital Disorder of Deglycosylation<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ngly1-cddg\/<\/td><\/td>\n<\/tr>\n
Nicolaides-Baraitser Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nbs\/<\/td><\/td>\n<\/tr>\n
Niemann-Pick Disease Type C<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/npc\/<\/td><\/td>\n<\/tr>\n
Nijmegen Breakage Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nijmegen\/<\/td><\/td>\n<\/tr>\n
NKX2-1-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nkx2-1-dis\/<\/td><\/td>\n<\/tr>\n
NKX6-2-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nkx6-2-spax\/<\/td><\/td>\n<\/tr>\n
Nonketotic Hyperglycinemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nkh\/<\/td><\/td>\n<\/tr>\n
Nonsyndromic 46,XX Testicular Disorders\/Differences of Sex Development<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/xxms\/<\/td><\/td>\n<\/tr>\n
Nonsyndromic Disorders of Testicular Development Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gonad-dys-46xy\/<\/td><\/td>\n<\/tr>\n
Nonsyndromic Hearing Loss and Deafness, Mitochondrial<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mt-deafness\/<\/td><\/td>\n<\/tr>\n
Nonsyndromic Retinitis Pigmentosa Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rp-overview\/<\/td><\/td>\n<\/tr>\n
Nonsyndromic Tooth Agenesis Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tooth-agenesis-ov\/<\/td><\/td>\n<\/tr>\n
Noonan Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/noonan\/<\/td><\/td>\n<\/tr>\n
Noonan Syndrome with Multiple Lentigines<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/leopard\/<\/td><\/td>\n<\/tr>\n
NOTCH3-Related Lateral Meningocele Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lms\/<\/td><\/td>\n<\/tr>\n
NR0B1-Related Adrenal Hypoplasia Congenita<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ahc\/<\/td><\/td>\n<\/tr>\n
NR2F1-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nr2f1-ndd\/<\/td><\/td>\n<\/tr>\n
NSDHL-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nsdhl-dis\/<\/td><\/td>\n<\/tr>\n
NTHL1\u00a0Tumor Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/nthl1-ts\/<\/td><\/td>\n<\/tr>\n
NTRK1\u00a0Congenital Insensitivity to Pain with Anhidrosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hsan4\/<\/td><\/td>\n<\/tr>\n
Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/leigh-nucl-ov\/<\/td><\/td>\n<\/tr>\n
Oculocutaneous Albinism and Ocular Albinism Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/oca-oa-ov\/<\/td><\/td>\n<\/tr>\n
Oculocutaneous Albinism Type 4<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/oca4\/<\/td><\/td>\n<\/tr>\n
Oculopharyngeal Muscular Dystrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/opmd\/<\/td><\/td>\n<\/tr>\n
Okur-Chung Neurodevelopmental Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/okur-chung\/<\/td><\/td>\n<\/tr>\n
Oral-Facial-Digital Syndrome Type I<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ofd1\/<\/td><\/td>\n<\/tr>\n
Ornithine Transcarbamylase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/otc-def\/<\/td><\/td>\n<\/tr>\n
Osteoglophonic Dysplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/og-dysp\/<\/td><\/td>\n<\/tr>\n
Osteopathia Striata with Cranial Sclerosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/os-cs\/<\/td><\/td>\n<\/tr>\n
OTOF-Related Deafness<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dfnb9\/<\/td><\/td>\n<\/tr>\n
Pachyonychia Congenita<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pc\/<\/td><\/td>\n<\/tr>\n
PACS1\u00a0Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pacs1-ndd\/<\/td><\/td>\n<\/tr>\n
PAFAH1B1-Related Lissencephaly\u00a0\/ Subcortical Band Heterotopia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/chrom17-lis\/<\/td><\/td>\n<\/tr>\n
Pancreatitis Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pancreatitis-ov\/<\/td><\/td>\n<\/tr>\n
Pantothenate Kinase-Associated Neurodegeneration<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pkan\/<\/td><\/td>\n<\/tr>\n
Parkin Type of Early-Onset Parkinson Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/jpd\/<\/td><\/td>\n<\/tr>\n
Parkinson Disease Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/parkinson-overview\/<\/td><\/td>\n<\/tr>\n
PAX2-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/papr\/<\/td><\/td>\n<\/tr>\n
PAX6-Related Aniridia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/aniridia\/<\/td><\/td>\n<\/tr>\n
Pediatric Genetic Cholestatic Liver Disease Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/chol-liver-ov\/<\/td><\/td>\n<\/tr>\n
Pelizaeus-Merzbacher-Like Disease 1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pmld1\/<\/td><\/td>\n<\/tr>\n
Pendred Syndrome\u00a0\/ Nonsyndromic Enlarged Vestibular Aqueduct<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pendred\/<\/td><\/td>\n<\/tr>\n
Periodontal Ehlers-Danlos Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/eds-pd\/<\/td><\/td>\n<\/tr>\n
Permanent Neonatal Diabetes Mellitus<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/dmn\/<\/td><\/td>\n<\/tr>\n
Perrault Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/perrault\/<\/td><\/td>\n<\/tr>\n
Peters Plus Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/peters-plus\/<\/td><\/td>\n<\/tr>\n
Peutz-Jeghers Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pjs\/<\/td><\/td>\n<\/tr>\n
Phelan-McDermid Syndrome-SHANK3\u00a0Related<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gr_22q13_3\/<\/td><\/td>\n<\/tr>\n
Phenylalanine Hydroxylase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pku\/<\/td><\/td>\n<\/tr>\n
Phosphoribosylpyrophosphate Synthetase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/arts\/<\/td><\/td>\n<\/tr>\n
Phosphoribosylpyrophosphate Synthetase Superactivity<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/prs\/<\/td><\/td>\n<\/tr>\n
Phosphorylase Kinase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gsd9\/<\/td><\/td>\n<\/tr>\n
PI4KA-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pi4ka\/<\/td><\/td>\n<\/tr>\n
PIK3CA-Related Overgrowth Spectrum<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pik3ca-overgrowth\/<\/td><\/td>\n<\/tr>\n
PINK1\u00a0Type of Young-Onset Parkinson Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pink1-pd\/<\/td><\/td>\n<\/tr>\n
Pitt-Hopkins Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pitt-hopkins\/<\/td><\/td>\n<\/tr>\n
PLA2G6-Associated Neurodegeneration<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/inad\/<\/td><\/td>\n<\/tr>\n
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/eds6\/<\/td><\/td>\n<\/tr>\n
PLP1\u00a0Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pmd\/<\/td><\/td>\n<\/tr>\n
PLPBP Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/plpbp-def\/<\/td><\/td>\n<\/tr>\n
PMM2-CDG<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cdg-1a\/<\/td><\/td>\n<\/tr>\n
PNPLA6\u00a0Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pnpla6-dis\/<\/td><\/td>\n<\/tr>\n
PNPO Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pnpo-def\/<\/td><\/td>\n<\/tr>\n
Poikiloderma with Neutropenia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/poikiloderma-n\/<\/td><\/td>\n<\/tr>\n
POLG-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/alpers\/<\/td><\/td>\n<\/tr>\n
POLR3-Related Leukodystrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pol3-leuk\/<\/td><\/td>\n<\/tr>\n
Polycystic Kidney Disease, Autosomal Dominant<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pkd-ad\/<\/td><\/td>\n<\/tr>\n
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/plosl\/<\/td><\/td>\n<\/tr>\n
Pompe Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gsd2\/<\/td><\/td>\n<\/tr>\n
PORCN-Related Developmental Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/focal-dh\/<\/td><\/td>\n<\/tr>\n
POT1\u00a0Tumor Predisposition<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pot1-tpd\/<\/td><\/td>\n<\/tr>\n
Potocki-Lupski Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/potocki-lupski\/<\/td><\/td>\n<\/tr>\n
PPP1R12A-Related Urogenital and\/or Brain Malformation Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ppp1r12a-ubm\/<\/td><\/td>\n<\/tr>\n
PPP2R1A-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ppp2r1a-ndd\/<\/td><\/td>\n<\/tr>\n
PPP2R5D-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ppp2r5d-dis\/<\/td><\/td>\n<\/tr>\n
Prader-Willi Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pws\/<\/td><\/td>\n<\/tr>\n
PRICKLE1-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/me-ataxia\/<\/td><\/td>\n<\/tr>\n
Primary Ciliary Dyskinesia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pcd\/<\/td><\/td>\n<\/tr>\n
Primary Coenzyme Q10\u00a0Deficiency Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/coq10-def\/<\/td><\/td>\n<\/tr>\n
Primary Congenital Glaucoma<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/glc\/<\/td><\/td>\n<\/tr>\n
Primary Familial and Congenital Polycythemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pfcp\/<\/td><\/td>\n<\/tr>\n
Primary Familial Brain Calcification<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/bgc\/<\/td><\/td>\n<\/tr>\n
Primary Hyperoxaluria Type 1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ph1\/<\/td><\/td>\n<\/tr>\n
Primary Hyperoxaluria Type 2<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ph2\/<\/td><\/td>\n<\/tr>\n
Primary Hyperoxaluria Type 3<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ph3\/<\/td><\/td>\n<\/tr>\n
Primary Mitochondrial Disorders Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mt-overview\/<\/td><\/td>\n<\/tr>\n
Primary Pyruvate Dehydrogenase Complex Deficiency Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pdhc-def-ov\/<\/td><\/td>\n<\/tr>\n
Primary Trimethylaminuria<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/trimethylaminuria\/<\/td><\/td>\n<\/tr>\n
Primrose Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/primrose\/<\/td><\/td>\n<\/tr>\n
Progressive Myoclonic Epilepsy Type 1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/epm1\/<\/td><\/td>\n<\/tr>\n
Progressive Myoclonus Epilepsy, Lafora Type<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lafora\/<\/td><\/td>\n<\/tr>\n
Progressive Pseudorheumatoid Dysplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ppr-dysp\/<\/td><\/td>\n<\/tr>\n
Prolidase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/prolidase-def\/<\/td><\/td>\n<\/tr>\n
PROP1-Related Combined Pituitary Hormone Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/prop1\/<\/td><\/td>\n<\/tr>\n
Propionic Acidemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/propionic-a\/<\/td><\/td>\n<\/tr>\n
Proteus Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/proteus\/<\/td><\/td>\n<\/tr>\n
Prothrombin Thrombophilia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ptt\/<\/td><\/td>\n<\/tr>\n
PRRT2-Related Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/prrt2-parox\/<\/td><\/td>\n<\/tr>\n
PRSS1-Related Hereditary Pancreatitis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/prss1-hp\/<\/td><\/td>\n<\/tr>\n
Pseudohypoaldosteronism Type II<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pha2\/<\/td><\/td>\n<\/tr>\n
Pseudoxanthoma Elasticum<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pxe\/<\/td><\/td>\n<\/tr>\n
PTEN\u00a0Hamartoma Tumor Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/phts\/<\/td><\/td>\n<\/tr>\n
Pulmonary Fibrosis Predisposition Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pf\/<\/td><\/td>\n<\/tr>\n
PURA-Related Neurodevelopmental Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pura-dis\/<\/td><\/td>\n<\/tr>\n
Pycnodysostosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pycnodys\/<\/td><\/td>\n<\/tr>\n
Pyridoxine-Dependent Epilepsy \u2013\u00a0ALDH7A1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pds\/<\/td><\/td>\n<\/tr>\n
Pyruvate Carboxylase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pdc\/<\/td><\/td>\n<\/tr>\n
RAB18 Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rab18-def\/<\/td><\/td>\n<\/tr>\n
RERE-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rere-dis\/<\/td><\/td>\n<\/tr>\n
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rvcl\/<\/td><\/td>\n<\/tr>\n
Retinoblastoma<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/retinoblastoma\/<\/td><\/td>\n<\/tr>\n
RFC1\u00a0CANVAS \/ Spectrum Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rfc1-canvas\/<\/td><\/td>\n<\/tr>\n
Rhabdoid Tumor Predisposition Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rtps\/<\/td><\/td>\n<\/tr>\n
Rhizomelic Chondrodysplasia Punctata Type 1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rcdp\/<\/td><\/td>\n<\/tr>\n
Riboflavin Transporter Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/riboflavin-tn\/<\/td><\/td>\n<\/tr>\n
Ritscher-Schinzel Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ritscher-schinzel\/<\/td><\/td>\n<\/tr>\n
RNU4atac-opathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rnu4atac-dis\/<\/td><\/td>\n<\/tr>\n
ROR2-Related Robinow Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rob\/<\/td><\/td>\n<\/tr>\n
Rothmund-Thomson Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rts\/<\/td><\/td>\n<\/tr>\n
Rotor Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rotor\/<\/td><\/td>\n<\/tr>\n
RPE65-Related Leber Congenital Amaurosis \/ Early-Onset Severe Retinal Dystrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rpe65-lca\/<\/td><\/td>\n<\/tr>\n
RPS6KA3-Related Intellectual Disability<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cls\/<\/td><\/td>\n<\/tr>\n
RRM2B\u00a0Mitochondrial DNA Maintenance Defects<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rrm2b-mtddepl\/<\/td><\/td>\n<\/tr>\n
Rubinstein-Taybi Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rsts\/<\/td><\/td>\n<\/tr>\n
RUNX1\u00a0Familial Platelet Disorder with Associated Myeloid Malignancies<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/runx1\/<\/td><\/td>\n<\/tr>\n
Saethre-Chotzen Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/scs\/<\/td><\/td>\n<\/tr>\n
Salih Myopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/salih-myo\/<\/td><\/td>\n<\/tr>\n
SALL1-Related Townes-Brocks Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tbs\/<\/td><\/td>\n<\/tr>\n
SALL4-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/drrs\/<\/td><\/td>\n<\/tr>\n
SAMD9L\u00a0Ataxia-Pancytopenia Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/samd9l-ap\/<\/td><\/td>\n<\/tr>\n
Sandhoff Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sandhoff\/<\/td><\/td>\n<\/tr>\n
SATB2-Associated Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/satb2-dis\/<\/td><\/td>\n<\/tr>\n
Saul-Wilson Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/saul-wilson\/<\/td><\/td>\n<\/tr>\n
SCARB2-Related Action Myoclonus \u2013 Renal Failure Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/amrf\/<\/td><\/td>\n<\/tr>\n
Schaaf-Yang Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/schaaf-yang\/<\/td><\/td>\n<\/tr>\n
Schimke Immunoosseous Dysplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/siod\/<\/td><\/td>\n<\/tr>\n
Schinzel-Giedion Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/schinzel-giedion\/<\/td><\/td>\n<\/tr>\n
Schmid Metaphyseal Chondrodysplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/schmid-mcd\/<\/td><\/td>\n<\/tr>\n
SCN1A\u00a0Seizure Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gefs\/<\/td><\/td>\n<\/tr>\n
SCN3A-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/scn3a-ndd\/<\/td><\/td>\n<\/tr>\n
SCN8A-Related Epilepsy and\/or Neurodevelopmental Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/scn8a-ee\/<\/td><\/td>\n<\/tr>\n
SCN9A\u00a0Neuropathic Pain Syndromes<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/etha\/<\/td><\/td>\n<\/tr>\n
Sepiapterin Reductase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/spr-def\/<\/td><\/td>\n<\/tr>\n
SERAC1 Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/megdel\/<\/td><\/td>\n<\/tr>\n
Serine Deficiency Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/serine-def\/<\/td><\/td>\n<\/tr>\n
SETBP1\u00a0Haploinsufficiency Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/setbp1-hd\/<\/td><\/td>\n<\/tr>\n
SETD1B-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/setd1b-ndd\/<\/td><\/td>\n<\/tr>\n
SETD2\u00a0Neurodevelopmental Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/setd2-ndd\/<\/td><\/td>\n<\/tr>\n
SGCE\u00a0Myoclonus-Dystonia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/myo-dystonia\/<\/td><\/td>\n<\/tr>\n
SH3TC2-Related Hereditary Motor and Sensory Neuropathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cmt4c\/<\/td><\/td>\n<\/tr>\n
SHORT Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/short\/<\/td><\/td>\n<\/tr>\n
Short-Chain Acyl-CoA Dehydrogenase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/scad\/<\/td><\/td>\n<\/tr>\n
SHOX Deficiency Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lwd\/<\/td><\/td>\n<\/tr>\n
Shprintzen-Goldberg Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sgs\/<\/td><\/td>\n<\/tr>\n
Shwachman-Diamond Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sds\/<\/td><\/td>\n<\/tr>\n
Sickle Cell Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sickle\/<\/td><\/td>\n<\/tr>\n
Silver-Russell Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rss\/<\/td><\/td>\n<\/tr>\n
Simpson-Golabi-Behmel Syndrome Type 1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sgbs\/<\/td><\/td>\n<\/tr>\n
Single Large-Scale Mitochondrial DNA Deletion Syndromes<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/kss\/<\/td><\/td>\n<\/tr>\n
Sitosterolemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/stsl\/<\/td><\/td>\n<\/tr>\n
SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/slc12a5-e\/<\/td><\/td>\n<\/tr>\n
SLC25A19-Related Thiamine Metabolism Dysfunction<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/amish-mcph\/<\/td><\/td>\n<\/tr>\n
SLC25A24\u00a0Fontaine Progeroid Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/slc25a24-fps\/<\/td><\/td>\n<\/tr>\n
SLC26A2-Related Atelosteogenesis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ao2\/<\/td><\/td>\n<\/tr>\n
SLC26A2-Related Multiple Epiphyseal Dysplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/edm\/<\/td><\/td>\n<\/tr>\n
SLC39A14 Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/slc39a14-def\/<\/td><\/td>\n<\/tr>\n
SLC39A8-CDG<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/slc39a8-cdg\/<\/td><\/td>\n<\/tr>\n
SLC6A1-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/slc6a1-ndd\/<\/td><\/td>\n<\/tr>\n
SLC6A3-Related Dopamine Transporter Deficiency Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/slc6a3-dtds\/<\/td><\/td>\n<\/tr>\n
Smith-Lemli-Opitz Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/slo\/<\/td><\/td>\n<\/tr>\n
Smith-Magenis Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sms\/<\/td><\/td>\n<\/tr>\n
Snyder-Robinson Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/snyder-robinson\/<\/td><\/td>\n<\/tr>\n
SOST-Related Sclerosing Bone Dysplasias<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sost\/<\/td><\/td>\n<\/tr>\n
Sotos Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sotos\/<\/td><\/td>\n<\/tr>\n
SOX2\u00a0Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sox2\/<\/td><\/td>\n<\/tr>\n
Spastic Paraplegia 11<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/spg11\/<\/td><\/td>\n<\/tr>\n
Spastic Paraplegia 15<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/spg15\/<\/td><\/td>\n<\/tr>\n
Spastic Paraplegia 3A<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/spg3a\/<\/td><\/td>\n<\/tr>\n
Spastic Paraplegia 4<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/spg4\/<\/td><\/td>\n<\/tr>\n
Spastic Paraplegia 7<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/spg7\/<\/td><\/td>\n<\/tr>\n
Spastic Paraplegia 8<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/spg8\/<\/td><\/td>\n<\/tr>\n
Sphingosine Phosphate Lyase Insufficiency Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sgpl1\/<\/td><\/td>\n<\/tr>\n
Spinal and Bulbar Muscular Atrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/kennedy\/<\/td><\/td>\n<\/tr>\n
Spinal Muscular Atrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sma\/<\/td><\/td>\n<\/tr>\n
Spinal Muscular Atrophy, X-Linked Infantile<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sma-xli\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia Type 1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sca1\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia Type 10<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sca10\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia Type 11<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sca11\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia Type 13<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sca13\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia Type 14<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sca14\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia Type 17<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sca17\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia Type 2<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sca2\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia Type 20<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sca20\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia Type 28<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sca28\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia Type 3<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sca3\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia Type 37<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sca37\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia Type 38<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sca38\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia Type 6<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sca6\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia Type 7<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sca7\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia Type 8<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sca8\/<\/td><\/td>\n<\/tr>\n
Spinocerebellar Ataxia with Axonal Neuropathy Type 1<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/scan1\/<\/td><\/td>\n<\/tr>\n
Spondylocostal Dysostosis, Autosomal Recessive<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/spondylocostal-d\/<\/td><\/td>\n<\/tr>\n
Spondylometaphyseal Dysplasia, Corner Fracture Type<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/smdcf\/<\/td><\/td>\n<\/tr>\n
SPTBN4\u00a0Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sptbn4\/<\/td><\/td>\n<\/tr>\n
SPTLC1-Related Hereditary Sensory Neuropathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hsn1\/<\/td><\/td>\n<\/tr>\n
Squalene Synthase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ss-def\/<\/td><\/td>\n<\/tr>\n
STAC3\u00a0Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/stac3-dis\/<\/td><\/td>\n<\/tr>\n
STAT3\u00a0Hyper IgE Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/higes\/<\/td><\/td>\n<\/tr>\n
Stickler Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/stickler\/<\/td><\/td>\n<\/tr>\n
STRC-Related Autosomal Recessive Hearing Loss<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/strc-hearing-loss\/<\/td><\/td>\n<\/tr>\n
Str\u00f8mme Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/stromme\/<\/td><\/td>\n<\/tr>\n
STXBP1\u00a0Encephalopathy with Epilepsy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/stxbp1-ee\/<\/td><\/td>\n<\/tr>\n
Succinic Semialdehyde Dehydrogenase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ssadh\/<\/td><\/td>\n<\/tr>\n
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sucla2-def\/<\/td><\/td>\n<\/tr>\n
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/suclg1-mtddepl\/<\/td><\/td>\n<\/tr>\n
SYNE1 Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/syne1ca-ar\/<\/td><\/td>\n<\/tr>\n
SYNGAP1-Related Intellectual Disability<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/syngap1-id\/<\/td><\/td>\n<\/tr>\n
Systemic Primary Carnitine Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/cdsp\/<\/td><\/td>\n<\/tr>\n
Tangier Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tangier\/<\/td><\/td>\n<\/tr>\n
TANGO2 Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tango2-mea\/<\/td><\/td>\n<\/tr>\n
TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tardbp-als\/<\/td><\/td>\n<\/tr>\n
Tatton-Brown-Rahman Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tbrs\/<\/td><\/td>\n<\/tr>\n
TBC1D24-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tbc1d24-dis\/<\/td><\/td>\n<\/tr>\n
TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tecpr2-hsan-id\/<\/td><\/td>\n<\/tr>\n
TEK-Related Venous Malformations<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/vmcm\/<\/td><\/td>\n<\/tr>\n
TET3-Related Beck-Fahrner Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/beck-fahrner\/<\/td><\/td>\n<\/tr>\n
TFR2-Related Hemochromatosis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tfr2\/<\/td><\/td>\n<\/tr>\n
Thanatophoric Dysplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/td\/<\/td><\/td>\n<\/tr>\n
Thiamine-Responsive Megaloblastic Anemia Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/trma\/<\/td><\/td>\n<\/tr>\n
THOC6\u00a0Intellectual Disability Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/thoc6-id\/<\/td><\/td>\n<\/tr>\n
Three M Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/gr_3ms\/<\/td><\/td>\n<\/tr>\n
Thrombocytopenia Absent Radius Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tar\/<\/td><\/td>\n<\/tr>\n
TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tk2-mtddepl\/<\/td><\/td>\n<\/tr>\n
TNF Receptor-Associated Periodic Fever Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/traps\/<\/td><\/td>\n<\/tr>\n
TNXB-Related Classical-Like Ehlers-Danlos Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tnxb-eds\/<\/td><\/td>\n<\/tr>\n
TP63-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/aec\/<\/td><\/td>\n<\/tr>\n
Treacher Collins Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tcs\/<\/td><\/td>\n<\/tr>\n
Trichohepatoenteric Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sd-thes\/<\/td><\/td>\n<\/tr>\n
Trichorhinophalangeal Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tps\/<\/td><\/td>\n<\/tr>\n
TRIO-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/trio-id\/<\/td><\/td>\n<\/tr>\n
TRMU Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/trmu-def\/<\/td><\/td>\n<\/tr>\n
Troyer Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/spg20\/<\/td><\/td>\n<\/tr>\n
TRPM3-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/trpm3-ndd\/<\/td><\/td>\n<\/tr>\n
TSEN54\u00a0Pontocerebellar Hypoplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pc-hypo-p\/<\/td><\/td>\n<\/tr>\n
TUBB4A-Related Leukodystrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tubb4a-leuk\/<\/td><\/td>\n<\/tr>\n
Tuberous Sclerosis Complex<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tuberous-sclerosis\/<\/td><\/td>\n<\/tr>\n
Tubulinopathies Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tubulin-ov\/<\/td><\/td>\n<\/tr>\n
TXNL4A-Related Craniofacial Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/burn-mckeown\/<\/td><\/td>\n<\/tr>\n
Type II Collagen Disorders Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/collagen-2\/<\/td><\/td>\n<\/tr>\n
Tyrosine Hydroxylase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/thdrd\/<\/td><\/td>\n<\/tr>\n
Tyrosinemia Type I<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/tyrosinemia\/<\/td><\/td>\n<\/tr>\n
Udd Distal Myopathy \u2013 Tibial Muscular Dystrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/udd\/<\/td><\/td>\n<\/tr>\n
UNC80 Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/unc80-def\/<\/td><\/td>\n<\/tr>\n
Urea Cycle Disorders Overview<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ucd-overview\/<\/td><\/td>\n<\/tr>\n
Urofacial Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/urofacial\/<\/td><\/td>\n<\/tr>\n
Usher Syndrome Type I<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/usher1\/<\/td><\/td>\n<\/tr>\n
Usher Syndrome Type II<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/usher2\/<\/td><\/td>\n<\/tr>\n
Variegate Porphyria<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/porphyria-var\/<\/td><\/td>\n<\/tr>\n
Vascular Ehlers-Danlos Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/eds4\/<\/td><\/td>\n<\/tr>\n
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/vlcad\/<\/td><\/td>\n<\/tr>\n
VLDLR\u00a0Cerebellar Hypoplasia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/vldlr-ch\/<\/td><\/td>\n<\/tr>\n
Von Hippel-Lindau Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/vhl\/<\/td><\/td>\n<\/tr>\n
von Willebrand Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/von-willebrand\/<\/td><\/td>\n<\/tr>\n
VPS13A\u00a0Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/chac\/<\/td><\/td>\n<\/tr>\n
VPS13D\u00a0Movement Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/vps13d-md\/<\/td><\/td>\n<\/tr>\n
VPS35-Related Parkinson Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/vps35-pd\/<\/td><\/td>\n<\/tr>\n
Waardenburg Syndrome Type I<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/ws1\/<\/td><\/td>\n<\/tr>\n
WAC-Related Intellectual Disability<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/wac-id\/<\/td><\/td>\n<\/tr>\n
WARS2 Deficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/wars2-def\/<\/td><\/td>\n<\/tr>\n
Warsaw Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/warsaw\/<\/td><\/td>\n<\/tr>\n
WAS-Related Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/was\/<\/td><\/td>\n<\/tr>\n
WDR26-Related Intellectual Disability<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/wdr26-id\/<\/td><\/td>\n<\/tr>\n
WDR62\u00a0Primary Microcephaly<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/wdr62-pm\/<\/td><\/td>\n<\/tr>\n
Weill-Marchesani Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/weill-ms\/<\/td><\/td>\n<\/tr>\n
Weiss-Kruszka Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/weiss-kruszka\/<\/td><\/td>\n<\/tr>\n
Werner Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/werner\/<\/td><\/td>\n<\/tr>\n
WFS1\u00a0Spectrum Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/wfs\/<\/td><\/td>\n<\/tr>\n
White-Sutton Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/white-sutton\/<\/td><\/td>\n<\/tr>\n
Wiedemann-Steiner Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/wiedemann-steiner\/<\/td><\/td>\n<\/tr>\n
Williams Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/williams\/<\/td><\/td>\n<\/tr>\n
Wilms Tumor Predisposition<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/wilms-ov\/<\/td><\/td>\n<\/tr>\n
Wilson Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/wilson\/<\/td><\/td>\n<\/tr>\n
Woodhouse-Sakati Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/wss\/<\/td><\/td>\n<\/tr>\n
WT1\u00a0Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/wt1-dis\/<\/td><\/td>\n<\/tr>\n
Xeroderma Pigmentosum<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/xp\/<\/td><\/td>\n<\/tr>\n
Xia-Gibbs Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/xia-gibbs\/<\/td><\/td>\n<\/tr>\n
X-Linked Acrogigantism<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/x-ag\/<\/td><\/td>\n<\/tr>\n
X-Linked Adrenoleukodystrophy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/x-ald\/<\/td><\/td>\n<\/tr>\n
X-Linked Agammaglobulinemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/xla\/<\/td><\/td>\n<\/tr>\n
X-Linked Congenital Retinoschisis<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/retinoschisis\/<\/td><\/td>\n<\/tr>\n
X-Linked Congenital Stationary Night Blindness<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/csnb\/<\/td><\/td>\n<\/tr>\n
X-Linked Dystonia-Parkinsonism<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/xdp\/<\/td><\/td>\n<\/tr>\n
X-Linked Hyper IgM Syndrome<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/xlhi\/<\/td><\/td>\n<\/tr>\n
X-Linked Hypophosphatemia<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/rickets-xlh\/<\/td><\/td>\n<\/tr>\n
X-Linked Lymphoproliferative Disease<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/x-lpd\/<\/td><\/td>\n<\/tr>\n
X-Linked Myotubular Myopathy<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/mtm\/<\/td><\/td>\n<\/tr>\n
X-Linked Otopalatodigital Spectrum Disorders<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/opd\/<\/td><\/td>\n<\/tr>\n
X-Linked Protoporphyria<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/epp-xl\/<\/td><\/td>\n<\/tr>\n
X-Linked Severe Combined Immunodeficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/x-scid\/<\/td><\/td>\n<\/tr>\n
X-Linked Spondyloepiphyseal Dysplasia Tarda<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/sedt\/<\/td><\/td>\n<\/tr>\n
Xq28 Duplication Syndrome, Int22h1\/Int22h2 Mediated<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/xq28-dup\/<\/td><\/td>\n<\/tr>\n
Y Chromosome Infertility<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/yci\/<\/td><\/td>\n<\/tr>\n
YIF1B-Related Neurodevelopmental Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/yif1b-ndd\/<\/td><\/td>\n<\/tr>\n
ZAP70-Related Combined Immunodeficiency<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/zap70-scid\/<\/td><\/td>\n<\/tr>\n
Zellweger Spectrum Disorder<\/td>https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pbd\/<\/td><\/td>\n<\/tr>\n
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