Синдром інтелектуальної недостатності-дисморфізму-гіпогонадизму-цукрового діабету
ORPHA:3044· ICD-10 Q87.8· Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Unknown
- Вік початку
- Childhood