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pontocerebellar hypoplasia type 2E

Disease Summary
Associated Targets (1)


Mondo Description Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.
Uniprot Description A neurodegenerative disorder characterized by progressive cerebello-cerebral atrophy, profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy.
Disease Ontology Description A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene.
Mondo Term and Equivalent IDs
MONDO:0014370:  pontocerebellar hypoplasia type 2E