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Entry Name Description Category Pathway Gene
H02273 Nonprogressive cerebellar ataxia with mental retardation ... of mild dysmorphism, intellectual disability, developmental delay, behavioral problems and cerebellar abnormalities. Heterozygous deletions in the CAMTA1 gene were recently reported in CANPMR patients. Nervous system disease CAMTA1 [HSA:23261] [KO:K21596]
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