autosomal recessive spinocerebellar ataxia 28

Term ID

DOID:0070409

Synonyms

• SCAR28

Definition

An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33. https://pubmed.ncbi.nlm.nih.gov/31168944/

References

• OMIM:618800

Ontology

Human Disease   ( DOID:0070409 )