Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

Orpha code: 3044OMIM code: 249599

Definition

A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.

Disease data
Classification

Malformation syndrome

ORPHA code
3044
OMIM code
249599
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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