stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (DOID:0070352)
Alliance: disease page
Synonyms: CONDSIAS
Alt IDs: OMIM:618170
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.