Term Name: | primary ciliary dyskinesia 44 |
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Synonyms: | CILD44, primary ciliary dyskinesia 44 without situs inversus |
Definition: | A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. |
Ontology: | Human Disease [DOID:0111851] ( DOID:0111851 ) |