neonatal diabetes mellitus with congenital hypothyroidism
A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others
MONDO:0019741
familial cystic renal disease
excluded_subClassOf
MONDO:0016391
neonatal diabetes mellitus
is_a
NDH
related
NDH syndrome
exact
neonatal diabetes mellitus with congenital hypothyroidism
exact