Synonyms: CLP1-related pontocerebellar hypoplasia | PCH10
A rare genetic pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay progressive microcephaly progressive spasticity seizures and brain abnormalities consisting of mild atrophy of the cerebellum pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows prominent eyes long palpebral fissures and eyelashes broad nasal root and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.
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
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Pontocerebellar hypoplasia type 10?
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Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
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Clinical Trials
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