Term Name: primary ciliary dyskinesia 54
Synonyms: CILD54
Definition: A primary ciliary dyskinesia characterized by a mild respiratory phenotype including rhinitis, sinusitis, asthma, and bronchiectasis that has_material_basis_in compound heterozygous mutation in the CFAP54 gene on chromosome 12q23. Some abnormalities of spermatozoa have been reported, but their effect on male fertility is unclear.
Ontology: Human Disease [DOID:0070767]   ( DOID:0070767 )

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