| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Leucocyte adhesion deficiency type 1 (NIPAL4) | Recurrent fever, respiratory distress and diagnosed with oxygen-dependent, severe pneumonia. | Autosomal Recessive | 5q33.3 | Missense | NIPAL4 | c.361G>A | p. Gly121Ser | Amino acid Substitution | Fayyaz et al., 2024/2024 |
