Term Name: stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
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 )

Relationships
is a type of: autosomal recessive disease neurodegenerative disease