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JABL: A variant of the alpha-thalassemia/mental retardation syndrome (ATR) without deletion of the short arm of chromosome 16, or without detectable molecular abnormalities of the alpha-globin complex. A form in which there is a deletion of the short arm of chromosome 16 is termed "alpha-thalassemia/mental retardation syndrome, deletion type" (q.v.). The phenotype of the nondeletion form comprises severe mental deficiency, facial abnormalities, short stature, genital deformities, and a mild form of hemoglobin H disease.
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umls-label:A20909883,
umls-label:A1702677,
umls-label:A1702678,
umls-label:A18462148,
umls-label:A18468212,
umls-label:A20271041,
umls-label:A1702683,
umls-label:A20277282,
umls-label:A1702684,
umls-label:A12030420,
umls-label:A20913585,
umls-label:A11958927,
umls-label:A18471349,
umls-label:A11973150,
umls-label:A18471350,
umls-label:A18449823
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