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intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

Disease Summary
Associated Targets ()

Mondo Description Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised 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.
Mondo Term and Equivalent IDs
MONDO:0009581:  intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
GARD:0009811: 
MESH:C537447: 
Orphanet:3044: 
SCTID:722454003: 
UMLS:C1855303: