Term Name: | stress-induced childhood-onset neurodegeneration with variable ataxia and seizures |
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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 speech, hearing loss, and cerebellar atrophy. |
Ontology: | Human Disease [DOID:0070352] ( DOID:0070352 ) |