Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy.
Two brothers were found to have an unusual congenital syndrome of lymphedema, pulmonary lymphagiectasia, hypoparthyroidism, hereditary nephropathy, prolapsing mitral valve, and other somatic abnormalities.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D007674:Kidney Diseases / Q000235:genetics*; D008209:Lymphedema / Q000235:genetics*; D008297:Male; D008945:Mitral Valve Prolapse / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome