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aniridia-renal agenesis-psychomotor retardation syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.
Mondo Term and Equivalent IDs
MONDO:0008796:  aniridia-renal agenesis-psychomotor retardation syndrome
GARD:0000690: 
MESH:C000598722: 
Orphanet:1064: 
SCTID:733116005: 
UMLS:C1859782: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found