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renal-coloboma syndrome; papillorenal syndrome, optic nerve coloboma with renal disease
Genetics:
- autosomal dominant
- associated with defects in PAX2
Clinical manifestations:
- renal hypoplasia
- vesicoureteral reflux
- dysplasia of the retina & optic disk
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 120330
References
UniProt :accession Q02962