PhenomeGene — Human Disease Gene Website SeriesLAMB2

Clinical Characteristics

Babies, infants children and teenagers may all present with Congenital nephrotic syndrome or Pierson syndrome. Affected individuals lose large amounts of protein in their urine and the kidneys are damaged as a result. Those who are affected eventually develop kidney failure. Some of those affected, especially those who develop kidney disease in infancy, are born with ocular and neuromuscular abnormalities. Otherwise intellectual development is normal.