Pontocerebellar hypoplasia type 2C

Common Name(s)

Pontocerebellar hypoplasia type 2C

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings ({1:Barth, 1993}). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pontocerebellar hypoplasia type 2C" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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