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Aniridia-absent patella syndrome
rareAniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.
- Identifiers
- MONDO:0007120 OMIM:106220Orphanet:1069
- Also known as
- aniridia absent patella · familial syndrome of aniridia and absence of the patella
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