Term Name: primary ciliary dyskinesia 18
Synonyms: CILD18, primary ciliary dyskinesia 18 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22.
Ontology: Human Disease [DOID:0110604]   ( DOID:0110604 )

Relationships
is a type of: primary ciliary dyskinesia