| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (AACS) | Cognitive impairment | Autosomal Recessive | 12q24.31 | Substitution | AACS | c.1388A>G | p.Asn463Ser | Missense | S Riazuddin et al., 2016/2016 |
| Intellectual Disability, Nonsyndromic (AACS) | Cognitive impairment | Autosomal Recessive | Chr12:5621351 | Substitution | AACS | c.1822C>T | p.Arg608Cys | Missense | S Riazuddin et al., 2016/2016 |
