Lipoid proteinosis (Urbach-Wiethe syndrome).
A Jewish-Iranian family suffered from lipoid proteinosis. The 8 affected siblings were from consanguineous matings and presented a wide range of phenotypic expressions. Minimal manifestations in 2 heterozygote carriers and the possibility of autosomal recessive inheritance are discussed.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005141:Eyelid Diseases / Q000209:etiology; D005260:Female; D006801:Humans; D008064:Lipidoses / Q000235:genetics*; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree; D010641:Phenotype