| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neonatal progeroid disorders (FREM1) | Low body mass index, proptosis, aged and dysmorphic facial features at the time of birth, prominent veins, sparse scalp hairs, and severe growth retardation | Autosomal Recessive | 9p22.3 | Substitution | FREM1 | c.247 C > T | p.H83Y | Missense | Siddiqi et al, 2023/2023 |
| Neonatal progeroid disorders (FREM1) | low body mass index, proptosis, aged and dysmorphic facial features at the time of birth, prominent veins, sparse scalp hairs, and severe growth retardation | Autosomal Recessive | 9p22.3 | Insertion | FREM1 | c.14769868InsA | ? | Siddiqi et al, 2023/2023 |
