papillorenal syndrome
MIM.120330 10q24.3-q25.1
Autosomal dominant malformative syndrome
Synopsis
retinal coloboma
optic nerve coloboma
microphthalmia
orbital cysts
optic disc dysplasia (#2685703#)
renal hypoplasia
vesicoureteral reflux
Arnold-Chiari type I malformation (#10533062#)
Etiology
PAX2 germline mutations (#11093271#, #11730657#, #9760197#, #8943028#, #9132492#, #8589702#, #7795640#, #10466411#, #8589702#, #8588587#)
See also
renal malformations
ocular malformations
morning glory syndrome