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pontocerebellar hypoplasia type 1C (DOID:0112334)
Alliance: disease page
Synonyms: PCH1C
Alt IDs: OMIM:616081
Definition: A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in EXOSC8 on chromosome 13q13.3.


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
09/27/2022
MGI 6.21
The Jackson Laboratory