has material basis in germline mutation in LAMB2 familial nephrotic syndrome nephrotic syndrome LAMB2-related infantile-onset nephrotic syndrome https://github.com/monarch-initiative/mondo/issues/7329 https://www.malacards.org/card/nephrotic_syndrome_type_5_with_or_without_ocular_abnormalities 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. OMIM:249660 MEDGEN:481743 nephrotic syndrome, type 5, with or without ocular abnormalities mesangial sclerosis, diffuse renal, with ocular abnormalities GARD:0027849 OMIM:614199 MONDO:0013621 NPHS5 DOID:0080380 UMLS:C3280113 MESH:C565405 Orphanet:306507