Clinicopathologic conference: a three-month-old infant with failure to thrive, hepatomegaly, and neurological impairment.
D003286:Contracture / Q000235:genetics / Q000473:pathology*; D003937:Diagnosis, Differential; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology*; D006529:Hepatomegaly / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D013577:Syndrome