Term Name: | primary ciliary dyskinesia 39 |
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Synonyms: | CILD39, primary ciliary dyskinesia 39 with or without situs inversus |
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. |
Ontology: | Human Disease [DOID:0111854] ( DOID:0111854 ) |