A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000505:Alopecia / Q000235:genetics; D000818:Animals; D001938:Brazil; D001940:Breast / Q000002:abnormalities; D002648:Child; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004426:Ear Deformities, Acquired / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D004480:Ectromelia / Q000235:genetics*; D004562:Electrocardiography; D004569:Electroencephalography; D006130:Growth Disorders / Q000235:genetics; D006334:Heart Function Tests; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D017880:Limb Deformities, Congenital; D008297:Male; D010375:Pedigree; D012801:Sibling Relations; D012868:Skin Abnormalities; D013961:Thyroid Gland / Q000002:abnormalities; D014071:Tooth Abnormalities / Q000235:genetics; D014364:Tryptophan / Q000652:urine
D014364:Tryptophan