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stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease neurodegenerative disease
External Links
- Disease Ontology
- DOID:0070352
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001761 | Pes cavus |
| HP:0006855 | Cerebellar vermis atrophy |
| HP:0001310 | Dysmetria |
| HP:0000639 | Nystagmus |
| HP:0002376 | Developmental regression |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0001260 | Dysarthria |
