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Human Disease

syndromic microphthalmia 9

Term ID
DOID:0111807
Synonyms
  • anophthalmia-pulmonary hypoplasia syndrome
  • anophthalmia/microphthalmia and pulmonary hypoplasia
  • clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations
  • Matthew-Wood syndrome
  • pulmonary agenesis microphthalmi and diaphragmatic defect
  • spear syndrome
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. (3)
References
Ontology
Human Disease   ( DOID:0111807 )
Relationships
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Genes Involved
Zebrafish Models