| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual disability (SLC13A3) | Intellectual disability | Autosomal Recessive | 20q13.12 | Substitution | SLC13A3 | c.1478C>T | p. Pro493Leu | Missense | Hussain et al, 2023/2023 |
