| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (MLC1) | Cognitive impairment | Autosomal Recessive | 22q13.33 | Substitution | MLC1 | c.C959A | p.The320Lys | Missense | Ilyas M et al., 2020/2020 |
