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X-linked retinitis pigmentosa and sinorespiratory infections
Summary
- Synonym
-
- primary ciliary dyskinesia-retinitis pigmentosa syndrome
- Definition
- A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4.
- Super Class
- X-linked monogenic disease syndrome
External Links
- Disease Ontology
- DOID:0112124
- Mondo Disease Ontology
- ORDO
- OMIM
