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Human Disease
Valence-Farazi cerebellar ataxia syndrome
- Term ID
- DOID:0070721
- Synonyms
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- VAFCAS
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0070721 )
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Genes Involved
Zebrafish Models