| Disease ID | Source | Name | Description |
| 618143 | OMIM | Glycosylphosphatidylinositol biosynthesis defect 18 (GPIBD18) | An autosomal recessive disorder with onset in utero or early infancy and characterized by severe global developmental delay, seizures, hypotonia, weakness, ataxia, and dysmorphic facial features. The disease is caused by variants affecting the gene represented in this entry. |