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pontocerebellar hypoplasia, type 11
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description A non-degenerative form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH11 features include severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia. PCH11 inheritance is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0054669: pontocerebellar hypoplasia, type 11
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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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:617695
MONDO:0054669
High level summary of knowledge for a disease, including descriptions and datasource references.