| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Brachyolmia Type 1 / Hobaek Form (PAPSS2) | Short height, scoliosis and a reduced trunk size | Autosomal Recessive | 10q23.2-q23.31 | Substitution | PAPSS2 | c.1037 G > C | p. R346P | Missense | Mustafa et al., 2022/2022 |
