Search Ontology:
Human Disease

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 speech, hearing loss, and cerebellar atrophy. (2)
References
Ontology
Human Disease   ( DOID:0070352 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models