Term Name: | primary ciliary dyskinesia 20 |
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Synonyms: | CILD20, primary ciliary dyskinesia 20 with or without situs inversus |
Definition: | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13. |
Ontology: | Human Disease [DOID:0110625] ( DOID:0110625 ) |