ZFIN Human Disease: stress-induced childhood-onset neurodegeneration with variable ataxia and seizures

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:	OMIM:618170
Ontology:	Human Disease ( DOID:0070352 )

Relationships

is a type of:	autosomal recessive disease neurodegenerative disease autosomal recessive disease neurodegenerative disease Show first 5 Terms

OTHER stress-induced childhood-onset neurodegeneration with variable ataxia and seizures PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ADPRHL2	adprs	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	618170

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None