| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Mitochondrial Disorder (TFAM) | primary ovarian insufciency, seizures, intellectual disability and hearing loss | Recessive | Missense | TFAM | c.694C>T | p.Arg232Cys | Amino Acid Substitution | Ullah et al., 2021/2021 |
