| Metadata | |
|---|---|
| ID | DOID:0110608 |
| Name | primary ciliary dyskinesia 19 |
| Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24. https://www.ncbi.nlm.nih.gov/pubmed/23122589, https://www.ncbi.nlm.nih.gov/pubmed/26998415 |
| Xrefs | |
| Synonyms |
CILD19 [EXACT] primary ciliary dyskinesia 19 with or without situs inversus [EXACT] |
| Parent Relationships |