primary ciliary dyskinesia 14

Term ID

DOID:0110598

Synonyms

• CILD14
• primary ciliary dyskinesia 14 with or without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. (2)

References

• ICD10CM:Q34.8
• OMIM:613807

Ontology

Human Disease   ( DOID:0110598 )