primary ciliary dyskinesia 23

Term ID

DOID:0110609

Synonyms

• CILD23
• primary ciliary dyskinesia 23 with or without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p. (2)

References

• ICD10CM:Q34.8
• OMIM:615451

Ontology

Human Disease   ( DOID:0110609 )