Pontocerebellar hypoplasia type 9

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Pontocerebellar hypoplasia type 9

Synonyms: PCH9

Pontocerebellar hypoplasia type 9 is a rare genetic subtype of non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay spastic tetraparesis seizures cortical visual impairment and on neuroimaging abnormal brain morphology that includes pontocerebellar hypoplasia ”figure of 8” midbrain appearance and more variably interhemispheric cysts ventriculomegaly and cerebral dysmyelination.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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