Term Name: primary ciliary dyskinesia 46
Synonyms: CILD46
Definition: A primary ciliary dyskinesia characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia that has_material_basis_in homozygous mutation in the STK36 gene on chromosome 2q35. Situs abnormalities have not been reported.
Ontology: Human Disease [DOID:0070758]   ( DOID:0070758 )

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