| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (MBOAT7) | Intellectual Disability | Autosomal Recessive | 19q13.42 | Substitution | MBOAT7 | c.757G>A | Glu253Lys | Missense | Asif et al., 2022/2022 |
