| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Methylmalonic acidemia and homocysteinemia, cblX type (HCFC1) | intellectual impairment, hypotonia, lethargy, tremor, developmental delays, a long face with a pointed chin, a high forehead, a flat philtrum groove, spasticity, an irregular stride, huge ears that were conspicuous, and nystagmus. | X linked | Xq28 | Missense | HCFC1 | c.5705G > A | p.Ser1902Asn | Amino acid Substitution | Hussain et. al. 2024/2024 |
