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Microphthalmia, syndromic 9
rareA 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.
- Identifiers
- MONDO:0011010 OMIM:601186Orphanet:2470
- Causal genes
- STRA6
- Part of
- Multiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic microphthalmiaThoracic malformation
- Also known as
- anophthalmia-pulmonary hypoplasia syndrome · clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations · Matthew Wood syndrome · Matthew-Wood syndrome · MCOPS9
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