Term Name: primary ciliary dyskinesia 55
Synonyms: Azoospermia-sinopulmonary infections syndrome, Sinusitis-infertility syndrome, young syndrome
Definition: A primary ciliary dyskinesia characterized by impairment of the function of the motile cilia of the airways, resulting in chronic respiratory tract infections and has_material_basis_in homozygous or compound heterozygous mutation in the CFAP221 gene on chromosome 2q14.
Ontology: Human Disease [DOID:0061226]   ( DOID:0061226 )

Relationships
is a type of: autosomal recessive disease primary ciliary dyskinesia