Version: 8.0.0
Date: Tue Jan 28 2025
primary ciliary dyskinesia 39
DOID:0111854
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

primary ciliary dyskinesia 39

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.
Synonyms
  • CILD39
  • primary ciliary dyskinesia 39 with or without situs inversus
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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