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primary ciliary dyskinesia 7
Summary
- Synonym
-
- CILD7
- primary ciliary dyskinesia 7 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21.
- Super Class
- primary ciliary dyskinesia
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:0000510 | Rod-cone dystrophy |
| HP:0000365 | Hearing impairment |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0000403 | Recurrent otitis media |
| HP:0003251 | Male infertility |
