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DOID DOID:0110600
Name primary ciliary dyskinesia 29
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15.
https://www.ncbi.nlm.nih.gov/pubmed/24747639, https://www.ncbi.nlm.nih.gov/pubmed/26998415
Synonyms

CILD29 [EXACT]

primary ciliary dyskinesia 29 without situs inversus [EXACT]

Xrefs

ICD10CM:Q34.8

OMIM:615872

Relationships

is_a primary ciliary dyskinesia

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