| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevolpmental disorder (LHFPL5) | Neurodevolpmental disorder | Autosomal Recessive | 6p21.31 | Deletion | LHFPL5 | c.250delC | p.Leu84* | Nonsense | Sun et al, 2023/2023 |
