Human genes for stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures [DOID:0070352]
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.
Synonyms: stress-induced childhood-onset neurodegeneration with variable ataxia and seizures, DOID:0070352, stressinduced childhoodonset neurodegeneration with variable ataxia and seizures, stress-induced childhood-onset neurodegeneration with variable ataxia and seizureses, CONDSIAS ...