| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Syndromic Intellectual Disability (SPTBN5) | Intellectual Disability, Developmental Delay, and Seizures | Autosomal Recessive | 15q15.1 | Substitution | SPTBN5 | c.266A>C | p.(His89Pro) | Missense | Khan et al., 2022/2022 |
