| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (MAN1B1) | Cognitive impairment | Autosomal Recessive | 9q34.3 | Substitution | MAN1B1 | 1189G>A | Glu397Lys | Missense | 0/Rafiq et al., 2011 |
| Intellectual Disability, Nonsyndromic (MAN1B1) | Cognitive impairment | Autosomal Recessive | 9q34.3 | Substitution | MAN1B1 | 1418G>A | Trp473* | Nonsense | 0/Rafiq et al., 2011 |
| Intellectual Disability, Nonsyndromic (METTL23) | Cognitive impairment | Autosomal Recessive | 17q25.1 | Substitution | METTL23 | 397C>T | Gln133* | Nonsense | 0/Bernkopf et al., 2014 |
