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Disease Ontology Browser
pontocerebellar hypoplasia type 13 (DOID:0112332)
Alliance: disease page
Synonyms: 'PCH13'
Alt IDs: OMIM:618606
Definition: A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in VPS51 on chromosome 11q13.1.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/28/2022
MGI 6.20
The Jackson Laboratory