| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Leucocyte adhesion deficiency type 1 (DNAH6) | Recurrent fever, respiratory distress and diagnosed with oxygen-dependent, severe pneumonia. | Autosomal Recessive | 2p11.2 | Missense | DNAH6 | c.7957T>C | p. Tyr2653His | Amino acid Substitution | Fayyaz et al., 2024/2024 |
