Term Name: | primary ciliary dyskinesia 15 |
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Synonyms: | CILD15, primary ciliary dyskinesia 15 with or without situs inversus |
Definition: | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25. |
Ontology: | Human Disease [DOID:0110623] ( DOID:0110623 ) |