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Senior-Loken syndrome

ORPHA:3156· ICD-10 Q61.5

Definition

A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

Prevalence
1-9 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Adolescent, Adult, Childhood, Infancy