Human genes for Wolcott-Rallison syndrome
Wolcott-Rallison syndrome [DOID:0090060]
A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2.
Synonyms: Wolcott-Rallison syndrome, DOID:0090060, WolcottRallison syndrome, Wolcott-Rallison disease, Wolcott-Rallison disorder ...