Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

Orpha code: 3044OMIM code: 249599

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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