Human genes for syndromic microphthalmia 9
Syndromic microphthalmia 9 [DOID:0111807]
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 STRA6 on chromosome 15q24.1.
Synonyms: syndromic microphthalmia 9, DOID:0111807, anophthalmia/microphthalmia and pulmonary hypoplasia, anophthalmia-pulmonary hypoplasia syndrome, clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations ...