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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:0001324 | Muscle weakness |
| HP:0000651 | Diplopia |
| HP:0002465 | Poor speech |
| HP:0000486 | Strabismus |
| HP:0002080 | Intention tremor |
| HP:0011463 | Childhood onset |
| HP:0001263 | Global developmental delay |
| HP:0000252 | Microcephaly |
| HP:0001308 | Tongue fasciculations |
| HP:0002121 | Generalized non-motor (absence) seizure |
