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References OMIM Gene GeneReviews HGMD HGNC
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
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