primary ciliary dyskinesia 45

Term ID

DOID:0111857

Synonyms

• CILD45
• primary ciliary dyskinesia 45 without situs inversus

Definition

A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. https://www.ncbi.nlm.nih.gov/pubmed/31978331

References

• OMIM:618801

Ontology

Human Disease   ( DOID:0111857 )