Синдром аніридії - інтелектуальної недостатності
ORPHA:1068· ICD-10 Q13.1· Aniridia-intellectual disability syndrome
Визначення(English summary)
An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Childhood