| Metadata | |
|---|---|
| ID | DOID:0060861 |
| Name | microphthalmia with limb anomalies |
| Definition | A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. https://www.ncbi.nlm.nih.gov/pubmed/21194678, https://www.ncbi.nlm.nih.gov/pubmed/6846395 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
anophthalmia-syndactyly syndrome [EXACT] MLA [EXACT] OAS [EXACT] ophthalmoacromelic syndrome [EXACT] Waardenburg anophthalmia syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |