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Metadata
DOID DOID:0110627
Name primary ciliary dyskinesia 26
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22.
Synonyms

CILD26 [EXACT]

primary ciliary dyskinesia 26 with or without situs inversus [EXACT]

Xrefs

ICD10CM:Q34.8

OMIM:615500

Relationships

is_a primary ciliary dyskinesia

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