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pontocerebellar hypoplasia type 10
Disease Summary
Associated Targets (1)
Tbio
1
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.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060279
OMIM:615803
Orphanet:411493
UMLS:C4014347
MONDO:0014349
High level summary of knowledge for a disease, including descriptions and datasource references.