Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000151:congenital* / Q000235:genetics; D005260:Female; D006801:Humans; D006869:Hydronephrosis / Q000151:congenital* / Q000235:genetics; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D013577:Syndrome