[Multiple abnormalities in a 5-month-old female infant with Leber's tapetoretinal dystrophy, total situs inversus, renal acidosis, vesico-ureteral reflux, malformations of the facial skull and toe insertion, heart defect].
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000141:Acidosis, Renal Tubular / Q000175:diagnosis*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D009896:Optic Atrophy / Q000175:diagnosis*; D012162:Retinal Degeneration / Q000175:diagnosis*; D012857:Situs Inversus / Q000175:diagnosis*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D014718:Vesico-Ureteral Reflux / Q000175:diagnosis*
Multiple Missbildungen bei einem 5 Monate alten weiblichen Säugling mit Leberscher tapetoretinaler Dystrophie, Situs inversus totalis, renaler Azidose, vesico-ureteralem Reflux, Malformation von Gesichtsschädel und Zehenstellung, Vitium cordis.