OBO ID: DOID:0070352
Term Name: stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Search Ontology:
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 speach, hearing loss, and cerebellar atrophy. (2)
References:
Ontology: Human Disease   (DOID:0070352)
OTHER stress-induced childhood-onset neurodegeneration with variable ataxia and seizures PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ADPRS Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 618170
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None