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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.omim.org/entry/618170, https://www.ncbi.nlm.nih.gov/pubmed/30100084
Xrefs

MIM:618170
Synonyms

CONDSIAS [EXACT]
Parent Relationships

is_a neurodegenerative disease

is_a autosomal recessive disease
Subclass Logical Relationships

has symptom some ataxia

existence starts during some Childhood onset

has symptom some seizure

has material basis in some autosomal recessive inheritance

has symptom some muscle weakness

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