Term Name: primary ciliary dyskinesia 14
Synonyms: CILD14, primary ciliary dyskinesia 14 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26.
Ontology: Human Disease [DOID:0110598]   ( DOID:0110598 )

Relationships
is a type of: primary ciliary dyskinesia