Human genes for microphthalmia with limb anomalies
Microphthalmia with limb anomalies [DOID:0060861]
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.
Synonyms: microphthalmia with limb anomalies, DOID:0060861, microphthalmia with limb anomalieses, anophthalmia-syndactyly syndrome, MLA ...