| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital Cataract (INPP5K) | Mild to moderate ID along with speech impairment | Autosomal recessive | 17p13.3 | Missense Mutation | INPP5K | 149T>C | Ile50Thr | Amino Acid Substitution | 0/Yousaf et al., 2018 |
