| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Mandibuloacral Dysplasia Type A (MADA, LMNA) | mandibular hypoplasia,skeletal &skin prob, | Autosomal Recessive | 1q22 | Missense | LMNA | 1580G>A | Arg527His | Amino Acid Substitution | Garavelli et al., 2009/2009 |
