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  • Title: X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.
    Author: Ogle R, DeSouza M, Cunningham C, Kerr B, Sillence D.
    Journal: J Med Genet; 1994 Mar; 31(3):245-7. PubMed ID: 8014976.
    Abstract:
    Two sibs with non-deletional alpha thalassaemia and mental retardation (ATR-X) have been ascertained showing variable neurological features. The proband had a complex neurological picture with recurrent apnoea, complex partial seizures, and prolonged periods of semiconsciousness between 12 and 17 months of age. Episodes of spontaneous laughter were also a feature. An EEG was initially normal. Hb H inclusions were present but rare in this family. The sole genital anomaly was deficiency of the foreskin, a feature not previously described in ATR-X.
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