syndromic microphthalmia 9 (DOID:0111807)
Alliance: disease page
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
Alt IDs: OMIM:601186, MESH:C537768, ORDO:2470, UMLS_CUI:C1832661
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.