stress-induced childhood-onset neurodegeneration with variable ataxia and seizures

Term ID

DOID:0070352

Synonyms

• CONDSIAS

Definition

A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy. (2)

References

• OMIM:618170

Ontology

Human Disease   ( DOID:0070352 )