Version: 8.0.0
Date: Tue Jan 28 2025
syndromic microphthalmia 9
DOID:0111807
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

syndromic microphthalmia 9

Definition
A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1.
Synonyms
  • anophthalmia-pulmonary hypoplasia syndrome
  • anophthalmia/microphthalmia and pulmonary hypoplasia
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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