Term Name: primary ciliary dyskinesia 49
Synonyms: CILD49
Definition: A primary ciliary dyskinesia characterized by onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance and male infertility due to defective flagellar morphology and function that has_material_basis_in compound heterozygous mutation in the CFAP74 gene on chromosome 1p36. Situs abnormalities have not been reported.
Ontology: Human Disease [DOID:0070762]   ( DOID:0070762 )

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