Nonprogressive cerebellar ataxia with mental retardation

Definition:

Nonprogressive cerebellar ataxia with mental retardation (CANPMR) is an autosomal dominant disorder with variable combination of mild dysmorphism, intellectual disability, developmental delay, behavioral problems and cerebellar abnormalities. Heterozygous deletions in the CAMTA1 gene were recently reported in CANPMR patients.

References:

[1]. Julien Thevenon, et al. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. J Med Genet. 2012 Jun;49(6):400-8. [Content Brief]

[2]. M Shinawi, et al. Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. Clin Genet. 2015 May;87(5):478-82. [Content Brief]

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