A syndrome characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D001284:Atrophy / Q000235:genetics; D001706:Biopsy; D002648:Child; D003241:Consanguinity; D003878:Dermatoglyphics; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005951:Glucose Tolerance Test; D006030:Glycosuria, Renal / Q000235:genetics; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics; D007057:Ichthyosis / Q000235:genetics* / Q000473:pathology; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009264:Nails, Malformed / Q000235:genetics; D009912:Oral Manifestations; D010375:Pedigree; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics; D014527:Uric Acid / Q000652:urine
D014527:Uric Acid