Disease

primary ciliary dyskinesia 9

Definition
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25.
Synonyms
  • CILD9
  • primary ciliary dyskinesia 9 with or without situs inversus
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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Associated Models