Disease ID | Source | Name | Description |
618170 | OMIM | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) | An autosomal recessive neurodegenerative disorder characterized by pediatric onset of progressive brain atrophy, developmental regression, and seizures in association with periods of stress, such as infections. The disease is caused by variants affecting the gene represented in this entry. |