Pontocerebellar hypoplasia type 9
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 2024
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Pontocerebellar hypoplasia type 9?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.