Disease ID | Source | Name | Description |
617810 | OMIM | Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) | An autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disease is caused by variants affecting the gene represented in this entry. |