Term Name: primary ciliary dyskinesia 44
Synonyms: CILD44, primary ciliary dyskinesia 44 without situs inversus
Definition: A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1.
Ontology: Human Disease [DOID:0111851]   ( DOID:0111851 )

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