Home > D. General pathology > Genetic and developmental anomalies > papillorenal syndrome
papillorenal syndrome
MIM.120330 10q24.3-q25.1
Monday 9 May 2005
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
