| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental Disorder (LINGO1) | Neurobehavioral disorder, including severe ID, motor and speech delay, microcephaly, and behavioral abnormalities. | Autosomal Recessive | 15q24.3 | Missense | LINGO1 | c.869G>A | p.Arg290His | Amino acid Substitution | Paracha et al. 2024/2024 |
