retinitis pigmentosa, X-linked with deafness & sinorespiratory infections

Introduction

Phenotype has similarities with primary ciliary dyskinesia & Usher syndrome

Genetics

• mutations in RPGR gene

More general terms

• retinitis pigmentosa (RP)

Additional terms

• retinitis pigmentosa type 3 (RP3)
• X-linked cone-rod dystrophy
• X-linked retinitis pigmentosa GTPase regulator (RPGR, RP3, XLRP3)

Database

• OMIM: https://mirror.omim.org/entry/300455
• OMIM: https://mirror.omim.org/entry/312610