Синдромна Х-зчеплена розумова відсталість 7
ORPHA:85274· ICD-10 Q87.8· Syndromic X-linked intellectual disability 7
Визначення(English summary)
A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.
- Поширеність
- <1 / 1 000 000
- Успадкування
- X-linked recessive
- Вік початку
- No data available