primary ciliary dyskinesia 38

Term ID

DOID:0111852

Synonyms

• CILD38
• primary ciliary dyskinesia 38 with or without situs inversus

Definition

A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. (2)

References

• OMIM:618063

Ontology

Human Disease   ( DOID:0111852 )