| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary neurological disorders (PIGP) | Impaired function of the central or peripheral nervous system due to aberrant electrical impulses | Autosomal Recessive | 21q22.13 | Substitution | PIGP | c.55C>T | p.Leu19Phe | Missense | Khan et al., 2022/2022 |
