ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

Source:http://linkedlifedata.com/resource/umls/id/C1845055

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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