Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings.
D000410:Alanine Transaminase / Q000097:blood; D001219:Aspartate Aminotransferases / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000235:genetics*; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D007668:Kidney / Q000473:pathology; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008099:Liver / Q000473:pathology; D008107:Liver Diseases / Q000151:congenital* / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D008297:Male; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D013577:Syndrome
D007770:L-Lactate Dehydrogenase; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase