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Pierson syndrome

ORPHA:2670· ICD-10 Q13.8

Definition

A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Childhood, Neonatal