| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevolpmental disorder (DDHD2) | Spastic paraplegia 54, autosomal recessive | Autosomal Recessive | 8p11.23 | Splice site | DDHD2 | c.411+767_c.1249-327del | ? | Splice site | Sun et al, 2023/2023 |
| Neurodevelopmental Disorder (DDHD2) | Delayed psychomotor and intellectual development and early onset rigidity of lower limbs due to hypertonia. | Autosomal Recessive | 8p11.23 | Missense | DDHD2 | c.2065G>T | p.Asp689Tyr | Amino acid Substitution | Paracha et al. 2024/2024 |
