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Disease Ontology Browser
pontocerebellar hypoplasia type 2C (DOID:0060269)
Alliance: disease page
Alt IDs: OMIM:612390, MESH:C567324, ORDO:2524, UMLS_CUI:C2676465
Definition: A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene.

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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory