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syndromic microphthalmia 9
Summary
- Synonym
-
- Matthew-Wood syndrome
- anophthalmia-pulmonary hypoplasia syndrome
- anophthalmia/microphthalmia and pulmonary hypoplasia
- clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations
- 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.
- Super Class
- autosomal recessive disease syndromic microphthalmia
External Links
- Disease Ontology
- DOID:0111807
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
