Term Name: X-linked retinitis pigmentosa and sinorespiratory infections
Synonyms: 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.
Ontology: Human Disease [DOID:0112124]   ( DOID:0112124 )

Relationships
is a type of: syndrome X-linked monogenic disease