ARL6 pathogenic variants may lead to one of the following clinical syndromes:
1) Bardet-Biedl syndrome 3:
Eye:
• Retinitis pigmentosa
• Retinal degeneration
Neurological (in some patients):
• Developmental delay
• Intellectual disability
Cardiovascular (in some patients):
• Interventricular septum hypertrophy
• Tricuspid regurgitation
Genitourinary:
• Renal hypoplasia
• Hypogenitalism
Other:
• Obesity
• Polydactyly (in feet and/or hands)
• Brachydactyly (in hands)
2) Retinitis Pigmentosa 55:
Eye:
• Nonsyndromic retinitis pigmentosa, with typical features of pale optic discs, attenuated retinal vessels, salt-and-pepper retinopathy, reduced visual acuity, and night blindness.
ARL6