Term Name: | primary ciliary dyskinesia 13 |
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Synonyms: | CILD13, primary ciliary dyskinesia 13 with or without situs inversus |
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. |
Ontology: | Human Disease [DOID:0110618] ( DOID:0110618 ) |