papillorenal syndrome
MIM.120330 10q24.3-q25.1
renal-coloboma syndrome, optic nerve coloboma with renal disease
Autosomal dominant malformative syndrome
Synopsis
retinal coloboma
optic nerve coloboma
microphthalmia
orbital cysts
renal hypoplasia
vesicoureteral reflux
Arnold-Chiari type I malformation
Etiology
PAX2 germline mutations
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