primary ciliary dyskinesia 20

Term ID

DOID:0110625

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. (2)

References

• ICD10CM:Q34.8
• OMIM:615067

Ontology

Human Disease   ( DOID:0110625 )