| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental Syndrome (PCDHGC4) | Progressive microcephaly, seizures, and joint anomalies | Autosomal Recessive | 5q31.3 | Substitution | PCDHGC4 | c.1449C>G | p.(Asp483Glu) | Missense | Iqbal et al., 2021/2021 |
