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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:0000602 | Ophthalmoplegia |
| HP:0003487 | Babinski sign |
| HP:0001251 | Ataxia |
| HP:0002059 | Cerebral atrophy |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001272 | Cerebellar atrophy |
| HP:0002093 | Respiratory insufficiency |
| HP:0000508 | Ptosis |
| HP:0003447 | Axonal loss |
| HP:0001250 | Seizure |
