Term Name: primary ciliary dyskinesia 15
Synonyms: CILD15, primary ciliary dyskinesia 15 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25.
Ontology: Human Disease [DOID:0110623]   ( DOID:0110623 )

Relationships
is a type of: primary ciliary dyskinesia