| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Stuttering (ARMC3) | Blocks in speech, prolongation, and repetition of sounds, syllables, and words | Autosomal Recessive | 10p12.2 | Splice Site | ARMC3 | c.916 + 1G > A | predicted to undergo NMD | Adil U Rehman et al., 2022/2022 |
