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Results 1 - 2 of 2 for Partington "X-linked" mental retardation syndrome
  1. ... abnormal genitalia, early infantile epileptic encephalopathy 1, and Partington syndrome (described above). Another is X-linked myoclonic epilepsy with intellectual disability and spasticity, which causes intellectual disability and epilepsy. ...
  2. ... cerebellar hypoplasia (MICPCH), and a milder form called X-linked intellectual disability (XL-ID) with or without nystagmus.The mutations ... Whibley A, Boyle J, Rogers C, Grigg J, Partington M, Stevenson RE, Tolmie J, ... and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum ...