| | Disease name | Disease category |
| MCAHS2 | H01486 | Multiple congenital anomalies-hypotonia-seizures syndrome | Inherited metabolic disorder |
| GPIBD16 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
| GPIBD17 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
| GPIBD14 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
| MCAHS4 | H01486 | Multiple congenital anomalies-hypotonia-seizures syndrome | Inherited metabolic disorder |
| HPMRS6 | H01488 | Hyperphosphatasia with mental retardation syndrome | Inherited metabolic disorder |
| CHIME | H01487 | CHIME syndrome | Inherited metabolic disorder |
| HPMRS5 | H01488 | Hyperphosphatasia with mental retardation syndrome | Inherited metabolic disorder |
| PIGM-CDG | H01127 | PIGM-congenital disorder of glycosylation | Inherited metabolic disorder |
| HPMRS1 | H01488 | Hyperphosphatasia with mental retardation syndrome | Inherited metabolic disorder |
| MCAHS1 | H01486 | Multiple congenital anomalies-hypotonia-seizures syndrome | Inherited metabolic disorder |
| GPIBD20 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
| HPMRS2 | H01488 | Hyperphosphatasia with mental retardation syndrome | Inherited metabolic disorder |
| GPIBD13 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
| GPIBD15 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
| GPIBD22 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
| GPIBD18 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
| MCAHS3 | H01486 | Multiple congenital anomalies-hypotonia-seizures syndrome | Inherited metabolic disorder |
| GPIBD21 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
| MRT42 | H01485 | Autosomal recessive mental retardation-42 | Inherited metabolic disorder |
| HPMRS4 | H01488 | Hyperphosphatasia with mental retardation syndrome | Inherited metabolic disorder |
| HPMRS3 | H01488 | Hyperphosphatasia with mental retardation syndrome | Inherited metabolic disorder |