Pontocerebellar hypoplasia type 10
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Pontocerebellar hypoplasia type 10?
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Genetic Epilepsy Team Australia
Collaboration of research and care
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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Curing single-gene disorders
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Syndromes Without A Name (SWAN) Australia
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