Term Name: primary ciliary dyskinesia 39
Synonyms: CILD39, primary ciliary dyskinesia 39 with or without situs inversus
Definition: A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5.
Ontology: Human Disease [DOID:0111854]   ( DOID:0111854 )

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