Term Name: primary ciliary dyskinesia 21
Synonyms: CILD21, primary ciliary dyskinesia 21 without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.
Ontology: Human Disease [DOID:0110596]   ( DOID:0110596 )

Relationships
is a type of: primary ciliary dyskinesia