| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (GPT2) | Cognitive impairment | Autosomal Recessive | 16q11.2 | Substitution | GPT2 | c.1210C>T | p.Arg404* | Nonsense | S Riazuddin et al., 2016/2016 |
| Intellectual Disability, Nonsyndromic (GPT2) | Severe ID, delayed developmental milestones with motor delay, speech problems, postnatal microcephaly, hypotonia, aggressive behavior, and spastic paraplegia. | Autosomal Recessive | 16q11.2 | Missense | GPT2 | c.815C>T | p.Pro272Leu | Amino acid Substitution | Paracha et al. 2024/2024 |
