Pontocerebellar hypoplasia type 1
Other Names for this Disease
- Norman disease
- Pontocerebellar hypoplasia with anterior horn cell disease
- Pontocerebellar hypoplasia with infantile spinal muscular atrophy
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Pontocerebellar hypoplasia type 1 (PCH1) is inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. This means that parents who are carriers of this condition have a 25% chance of having an affected child.
Last updated: 7/20/2011
- Pontocerebellar hypoplasia. Genetics Home Reference (GHR). December 2009; http://ghr.nlm.nih.gov/condition=pontocerebellarhypoplasia. Accessed 7/20/2011.