Synonyms: PCH9
A rare genetic 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 April 2026
Newly diagnosed with
Pontocerebellar hypoplasia type 9?
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Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
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Clinical Trials
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