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Disease Ontology Browser
Valence-Farazi cerebellar ataxia syndrome (DOID:0070721)
Alliance: disease page
Synonyms: VAFCAS
Alt IDs: OMIM:621386
Definition: An autosomal recessive cerebellar ataxia characterized by hypotonia, delayed motor development with mildly delayed walking, ataxic gait, clumsiness, and cerebellar hypoplasia or dysplasia on brain imaging that has_material_basis_in homozygous mutation in the SKOR2 gene on chromosome 18q21.

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
05/26/2026
MGI 6.24 		The Jackson Laboratory