spinocerebellar ataxia with axonal neuropathy 1

Term ID

DOID:0090115

Synonyms

• autosomal recessive spinocerebellar ataxia with axonal neuropathy 1
• SCAN1
• spinocerebellar ataxia with axonal neuropathy type 1

Definition

A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94124

References

• GARD:10000
• ICD10CM:G60.2
• OMIM:607250
• ORDO:94124

Ontology

Human Disease   ( DOID:0090115 )