-E1Cerebro-hepato-renal syndrome and thymic aplasia (author's transl).
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000138:Acidosis / Q000175:diagnosis; D001344:Autopsy; D001847:Bone Diseases / Q000175:diagnosis*; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities / Q000473:pathology; D008099:Liver / Q000002:abnormalities / Q000473:pathology; D008297:Male; D009130:Muscle, Smooth / Q000473:pathology; D009136:Muscular Dystrophies / Q000473:pathology; D013577:Syndrome; D013950:Thymus Gland / Q000002:abnormalities*
Síndrome cerebro=hepato-renal y agenesia de timo