Disease ID | Source | Name | Description |
616025 | OMIM | Glycosylphosphatidylinositol biosynthesis defect 11 (GPIBD11) | An autosomal recessive neurologic disorder characterized by developmental delay, mental retardation, tonic seizures associated with hypsarrhythmia, dysmorphic facial features, and elevated serum alkaline phosphatase. The disease is caused by variants affecting the gene represented in this entry. |