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Aniridia-renal agenesis-psychomotor retardation syndrome
rareAniridia - 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.
- Identifiers
- MONDO:0008796 OMIM:206750Orphanet:1064
- Part of
- Disorder of visual systemHereditary diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic disease
- Also known as
- aniridia partial with unilateral renal agenesis and psychomotor retardation · aniridia renal agenesis psychomotor retardation · Sommer Rathbun Battles syndrome · Sommer-Rathbun-Battles syndrome
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