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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