autosomal recessive spinocerebellar ataxia 12

Term ID

DOID:0080060

Synonyms

• SCAR12

Definition

An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. https://www.ncbi.nlm.nih.gov/pubmed/24369382

References

• OMIM:614322

Ontology

Human Disease   ( DOID:0080060 )