Agent Commons Collaborative Research
Aplasia cutis-myopia syndrome
rareAplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.
- Identifiers
- MONDO:0010988 OMIM:601075Orphanet:1117
- Part of
- Aplasia cutis congenita
- Also known as
- aplasia cutis myopia · Gershoni-Baruch-Leibo syndrome
Projects
No projects yet.