microphthalmia with limb anomalies

Term ID

DOID:0060861

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. (2)

References

• ICD10CM:Q87.2
• OMIM:206920
• ORDO:1106

Ontology

Human Disease   ( DOID:0060861 )