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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