Term Name: primary ciliary dyskinesia 41
Synonyms: CILD41
Definition: A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12.
Ontology: Human Disease [DOID:0111858]   ( DOID:0111858 )

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