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Metadata
ID	DOID:0070352
Name	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
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. https://www.ncbi.nlm.nih.gov/pubmed/30100084, https://www.omim.org/entry/618170
Xrefs	MIM:618170
Synonyms	CONDSIAS [EXACT]
Parent Relationships	is_a neurodegenerative disease is_a autosomal recessive disease