Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

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.

Also known as: Belgian type intellectual disability syndrome, Belgian type mental retardation syndrome, intellectual disability syndrome, Belgian type, mental retardation syndrome, Belgian type

0 clinical trials for this condition and its sub-types, 0 tagged with Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome itself.