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Human Disease

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
Ontology
Human Disease   ( DOID:0060861 )
Relationships
is a type of
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Genes Involved
Zebrafish Models