| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (ZFYVE26) | Cognitive impairment | Autosomal Recessive | 14q24.1 | Delation | ZFYVE26 | c.1630_1631delTC | p.Ser544Leufs*24 | Frameshift | S Riazuddin et al., 2016/2016 |
