microphthalmia with limb anomalies (DOID:0060861)
Alliance: disease page
Synonyms: anophthalmia-syndactyly syndrome; MLA; OAS; ophthalmoacromelic syndrome; Waardenburg anophthalmia syndrome
Alt IDs: OMIM:206920, ICD10CM:Q87.2, ORDO:1106
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.