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pontocerebellar hypoplasia, type 11

Disease Summary
Associated Targets (1)


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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
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found