Pierson syndrome

Also known as: Microcoria–congenital nephrosis syndrome

Congenital nephrotic syndrome with ocular abnormalities.

Medical specialty: Nephrology
Subspecialty: Nephrology / Hereditary kidney disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, neonatal
Gene(s) involved: LAMB2

Etiology & mechanism

LAMB2 variants affect glomerular basement membrane.

Gene(s) involved (1)

LAMB2

Symptoms & signs (5)

blindnesscongenital nephrotic syndromehypotoniamicrocorianeurologic impairment

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