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pontocerebellar hypoplasia type 9

Disease Summary
Associated Targets (1)
Tchem

1


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Mondo Description Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.
Uniprot Description A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH9 features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination.
Disease Ontology Description A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.
Mondo Term and Equivalent IDs
MONDO:0014351:  pontocerebellar hypoplasia type 9
Orphanet:369920: 
UMLS:C4014354: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)