Ізольована мікрофтальмія-анофтальмія-колобома
ORPHA:2542· Isolated microphthalmia-anophthalmia-coloboma
Визначення(English summary)
A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Вік початку
- Antenatal, Neonatal