Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome

Also known as: WAGR syndrome

11p13 deletion syndrome with aniridia, Wilms tumor and intellectual disability.

Medical specialty: Ophthalmology
Subspecialty: Ophthalmology / Congenital malformation
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital aniridia
Gene(s) involved: BDNF, PAX6, WT1

Etiology & mechanism

Contiguous deletion of PAX6 and WT1.

Gene(s) involved (3)

BDNFPAX6WT1

Symptoms & signs (6)

aniridiagenitourinary anomaliesintellectual disabilitynystagmusobesitywilms tumor

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.