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pontocerebellar hypoplasia type 10

Disease Summary
Associated Targets (1)


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Mondo Description Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.
Uniprot Description A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH10 features include cortical dysgenesis marked by a simplified gyral pattern, cortical atrophy, mild or focal cerebellar vermian volume loss, delayed myelination, progressive microcephaly, global growth and developmental delays, severe intellectual disabilities, and seizures refractory to treatment.
Disease Ontology Description A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene.
Mondo Term and Equivalent IDs
MONDO:0014349:  pontocerebellar hypoplasia type 10
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)