A rare hereditary autosomal recessive disorder characterized by permanent neonatal or early infancy type 1 diabetes mellitus. Epiphyseal dysplasia, OSTEOPOROSIS, and growth retardation develop at a later age. Affected individuals may also present with LIVER DISEASE; KIDNEY DISEASE; INTELLECTUAL DISABILITY, and CARDIOVASCULAR ABNORMALITIES. Mutations in the EIF2AK3 gene have been identified. OMIM: 226980
Date introduced: August 25, 2010