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DOID DOID:0110618
Name primary ciliary dyskinesia 13
Definition A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.
https://www.ncbi.nlm.nih.gov/pubmed/19944400, https://www.ncbi.nlm.nih.gov/pubmed/26998415
Synonyms

CILD13 [EXACT]

primary ciliary dyskinesia 13 with or without situs inversus [EXACT]

Xrefs

ICD10CM:Q34.8

OMIM:613193

Relationships

is_a primary ciliary dyskinesia

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