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Results 1 - 1 of 1 for "Hypotonia," "infantile," with psychomotor retardation characteristic facies 2
  1. UNC80 deficiency 
    ... retardation and characteristic facies-2 Genetic Testing Registry: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 National Organization for Rare Disorders (NORD) HYPOTONIA, INFANTILE, ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics