| Metadata | |
|---|---|
| ID | DOID:0111854 |
| Name | primary ciliary dyskinesia 39 |
| Definition | A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5. https://www.ncbi.nlm.nih.gov/pubmed/30388400 |
| Xrefs | |
| Synonyms |
CILD39 [EXACT] primary ciliary dyskinesia 39 with or without situs inversus [EXACT] |
| Parent Relationships |