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ORPHA:191· ICD-10 Q87.1· Cockayne syndrome

Визначення(English summary)

Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.

Поширеність
Unknown
Успадкування
Autosomal recessive
Вік початку
All ages