| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) syndrome (GEMIN5) | ID, cerebral atrophy, mobility, and speech impairment | Autosomal Recessive | 5q33.2 | Deletion | GEMIN5 | c.3162_3164del | p. (Asp1054_Ala1055delinsGlu) | Frameshift | Ibrahim et al, 2023/2023 |
