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Results 1 - 5 of 5 for Dysmorphic features
  1. ... moderate to severe intellectual disability, mild physical abnormalities (dysmorphic features), and weak muscle tone (hypotonia), among other features. ... are associated with developmental delay, intellectual disability, and dysmorphic features. Neurogenetics. 2016 Jul;17(3):159-64. doi: ...
  2. ... STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Hum Mutat. 2018 Dec; ...
  3. ... including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. Epilepsia. ...
  4. ... B, Boyar FZ. Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ ...
  5. ... M, Stekrova J. SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and ...