Term Name: syndromic microphthalmia 9
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 )

Relationships
is a type of: autosomal recessive disease syndromic microphthalmia