| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (MFSD2A) | Cognitive impairment | Autosomal Recessive | 1p34.2 | Substitution | MFSD2A | c.632C>T | p.Thr211Met | Missense | S Riazuddin et al., 2016/2016 |
