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Окулоцереброкутанний синдром

ORPHA:1647· ICD-10 Q87.8· Oculocerebrocutaneous syndrome

Визначення(English summary)

A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.

Поширеність
<1 / 1 000 000
Успадкування
Not applicable
Вік початку
Neonatal