primary ciliary dyskinesia 26

Term ID

DOID:0110627

Synonyms

• CILD26
• primary ciliary dyskinesia 26 with or without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22. (2)

References

• ICD10CM:Q34.8
• MIM:615500

Ontology

Human Disease   ( DOID:0110627 )