disease has basis in dysfunction of LAMB2 familial nephrotic syndrome nephrotic syndrome LAMB2-related infantile-onset nephrotic syndrome ICD10:N04.8 LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. MONDO:0013621 NPHS5 OMIM:614199 Orphanet:306507 UMLS:C3280113 nephrotic syndrome, type 5, with or without ocular abnormalities primary glomerular disease