| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Autophagy Disorder Congenital (WIPI2) | mental retardation, speech and language impairment and other neurological, psychiatric, skeletal and cardiac abnormalities | Autosomal Recessive | 7p22 | Missense | WIPI2 | G745A | V249M | Amino Acid Substitution | Jelani et al., 2019/2019 |
