intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

Rare Disease

MONDO:0009581

Also Known As

Belgian type intellectual disability syndromeBelgian type mental retardation syndromeintellectual disability syndrome, Belgian typemental retardation syndrome, Belgian type

Definition

Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterized by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait.