Version: 8.0.0
Date: Tue Jan 28 2025
microphthalmia with limb anomalies
DOID:0060861
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

microphthalmia with limb anomalies

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.
Synonyms
  • anophthalmia-syndactyly syndrome
  • MLA
Cross References
Parent Terms
Child Terms
None
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