Term Name: primary ciliary dyskinesia 13
Synonyms: CILD13, primary ciliary dyskinesia 13 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.
Ontology: Human Disease [DOID:0110618]   ( DOID:0110618 )

Relationships
is a type of: primary ciliary dyskinesia