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| pontocerebellar hypoplasia ： ウィキペディア英語版 |
pontocerebellar hypoplasia
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the pons). Where known, these disorders are inherited in an autosomal recessive fashion. There is no known cure for PCH.
== Classification ==
Pontocerebellar hypoplasia is classified as follows:
Pontine and cerebellar hypoplasia is also observed in certain phenotypes of X-linked mental retardation (so called MICPCH, OMIM: ).
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