primary ciliary dyskinesia 17

Term ID

DOID:0110621

Synonyms

• CILD17
• primary ciliary dyskinesia 17 with or without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. (2)

References

• ICD10CM:Q34.8
• OMIM:614679

Ontology

Human Disease   ( DOID:0110621 )