primary ciliary dyskinesia 40 (DOID:0111853)
Alliance: disease page
Synonyms: CILD40; primary ciliary dyskinesia 40 with or without situs inversus
Alt IDs: OMIM:618300
Definition: A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12.