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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |