primary ciliary dyskinesia 13

Term ID

DOID:0110618

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. (2)

References

• ICD10CM:Q34.8
• OMIM:613193

Ontology

Human Disease   ( DOID:0110618 )