spinocerebellar ataxia type 4

Term ID

DOID:0050957

Synonyms

• SCA4

Definition

An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22. (2)

References

• GARD:9970
• MIM:600223
• ORDO:98765
• SNOMEDCT_US_2023_03_01:715755008
• UMLS_CUI:C0752122

Ontology

Human Disease   ( DOID:0050957 )