A recessive disorder with growth and mental retardation, peculiar facies, abnormal pigmentation, hepatic cirrhosis and aminoaciduria.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000596:Amino Acids / Q000652:urine; D001847:Bone Diseases / Q000175:diagnosis; D002845:Chromatography; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis; D005145:Face; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D006228:Hand Deformities, Congenital; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008103:Liver Cirrhosis / Q000175:diagnosis / Q000235:genetics*; D009667:Nose Deformities, Acquired / Q000235:genetics; D010375:Pedigree; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D013577:Syndrome; D014034:Toes / Q000002:abnormalities
D000596:Amino Acids