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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