primary ciliary dyskinesia 43

Term ID

DOID:0111856

Synonyms

• CILD43
• primary ciliary dyskinesia 43 with or without situs inversus

Definition

A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. https://www.ncbi.nlm.nih.gov/pubmed/31630787

References

• MIM:618699

Ontology

Human Disease   ( DOID:0111856 )