Term Name: | microphthalmia with limb anomalies |
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Synonyms: | anophthalmia-syndactyly syndrome, MLA, OAS, ophthalmoacromelic syndrome, Waardenburg anophthalmia syndrome |
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. |
Ontology: | Human Disease [DOID:0060861] ( DOID:0060861 ) |