Term Name: microphthalmia with limb anomalies
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 )

Relationships
is a type of: autosomal recessive disease syndrome