SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/722454003
http://purl.bioontology.org/ontology/SNOMEDCT/722454003
Preferred Name

Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome

Definitions
This syndrome has characteristics of moderate intellectual deficit, craniofacial dysmorphism, 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.
Synonyms
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
Mental retardation syndrome Belgian type
Type http://www.w3.org/2002/07/owl#Class
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