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Human Disease
primary ciliary dyskinesia 17
- Term ID
- DOID:0110621
- Synonyms
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- CILD17
- primary ciliary dyskinesia 17 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. (2)
- References
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- ICD10CM:Q34.8
- MIM:614679
- Ontology
- Human Disease ( DOID:0110621 )
- is a type of
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