Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 25/07/2006 |
Symbol | NDH |
Location | 9p24.3-p23 |
Name | neonatal diabetes mellitus and congenital hypothyroidism syndrome |
Corresponding gene | GLIS3 |
Main clinical features | syndrome of minor facial anomalies, proportionate intrauterine growth retardation, neonatal nonimmune diabetes mellitus, severe congenital hypothyroidism, cholestasis, congenital glaucoma, and polycystic kidneys, liver disease progressed to hepatic fibrosis |
Genetic determination | autosomal recessive |
Function/system disorder | endocrinology |
eye | |
kidney and urinary tract | |
Type | disease |
Remark(s) | pter - D9S917 - D9S1858 - D9S54 - [D9S939 - D9S230 - D9S1871 - D9S288 - D9S1873 - D9S178 - D9S1813 - D9S1686 - D9S1810] - D9S2169 - D9S1681 - D9S1852 - cen |