| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| MCPH15 (MFSD2A) | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities | Autosomal Recessive | 1p34.2 | Substitution | MFSD2A | c.593C>T | p.(Thr198Met) | Missense | Scala et al., 2020/2020 |
| MCPH15 (MFSD2A) | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities | Autosomal Recessive | 1p34.2 | Substitution | MFSD2A | c.1016C>T | p.Ser339Leu | Missense | Scala et al., 2020/2020 |
