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

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/120330