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syndromic microphthalmia 9 (Spear syndrome, Matthew-Wood syndrome)
Pathology:
- mild facial dysmorphism
- variable malformations of the lung, heart, & diaphragm
- pulmonary agenesis,
- microphthalmia
- diaphragmatic defect
Genetics:
- associated with defects in STRA6
General
genetic syndrome (multisystem disorder)
microphthalmia (nanophthalmos)
Database Correlations
OMIM 601186
References
OMIM :accession 601186