Microphthalmia, syndromic 9
Microphthalmia, syndromic 9
Definition
A syndromic microphthalmiae in which the cause of the disease is a mutation in the STRA6 gene. It is characterized by microphthalmia or anophthalmia, and variable features including including intellectual disability, pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration and congenital heart disease.
Also known as anophthalmia-pulmonary hypoplasia syndrome, clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations, Matthew Wood syndrome, Matthew-Wood syndrome, MCOPS9, microphthalmia syndromic 9, pulmonary agenesis microphthalmi and diaphragmatic defect, Spear syndrome, STRA6-related syndromic microphthalmia — per MONDO