primary ciliary dyskinesia 15

Term ID

DOID:0110623

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. (2)

References

• ICD10CM:Q34.8
• OMIM:613808

Ontology

Human Disease   ( DOID:0110623 )