| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (HHAT) | Cognitive impairment | Autosomal Recessive | 1q32.2 | Substitution | HHAT | c.1158G>C | p.Trp386Cys | Missense | Z Agha et al., 2014/2014 |
