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Human Disease
primary ciliary dyskinesia 20
- Term ID
- DOID:0110625
- Synonyms
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- CILD20
- primary ciliary dyskinesia 20 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13. (2)
- References
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- ICD10CM:Q34.8
- MIM:615067
- Ontology
- Human Disease ( DOID:0110625 )
- is a type of
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