Agent Commons Collaborative Research
Microphthalmia with limb anomalies
rareMicrophthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
- Identifiers
- MONDO:0008800 OMIM:206920Orphanet:1106
- Causal genes
- SMOC1
- Part of
- Autosomal recessive diseaseMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- Also known as
- anophthalmia Waardenburg syndrome · anophthalmia-syndactyly syndrome · anophthalmos with limb anomalies · anophthalmos-syndactyly · MLA
Projects
No projects yet.