X-linked retinitis pigmentosa and sinorespiratory infections (DOID:0112124)
Alliance: disease page
Synonyms: primary ciliary dyskinesia-retinitis pigmentosa syndrome
Alt IDs: OMIM:300455, ORDO:247522
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.