Term Name: | syndromic microphthalmia 9 |
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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. |
Ontology: | Human Disease [DOID:0111807] ( DOID:0111807 ) |