title: Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones.
abstract: Two male cousins are reported with arachnodactyly, selective aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones, and a distant female relative with similar abnormalities. The syndrome is thought to be previously undescribed, though it has resemblances to Marinesco-Sjögren and Marfan's syndromes.
mesh_terms: D000293:Adolescent; D002386:Cataract / Q000151:congenital* / Q000235:genetics / Q000378:metabolism; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000378:metabolism; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D000608:Renal Aminoacidurias / Q000235:genetics* / Q000378:metabolism; D013060:Speech; D013285:Strabismus / Q000235:genetics; D013577:Syndrome