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primary ciliary dyskinesia 39
Summary
- Synonym
-
- CILD39
- primary ciliary dyskinesia 39 with or without situs inversus
- Definition
- A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5.
- Super Class
- autosomal recessive disease primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0111854
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000389 | Chronic otitis media |
| HP:0000750 | Delayed speech and language development |
| HP:0000238 | Hydrocephalus |
| HP:0000405 | Conductive hearing impairment |
| HP:0000119 | Abnormality of the genitourinary system |
| HP:0000403 | Recurrent otitis media |
| HP:0000510 | Rod-cone dystrophy |
| HP:0000365 | Hearing impairment |
| HP:0002878 | Respiratory failure |
| HP:0001746 | Asplenia |
