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Results 1 - 7 of 7 for dysmorphic
  1. HIVEP2 gene 
    ... moderate to severe intellectual disability, mild physical abnormalities (dysmorphic features), and weak muscle tone (hypotonia), among other ... are associated with developmental delay, intellectual disability, and dysmorphic features. Neurogenetics. 2016 Jul;17(3):159-64. ...
    https://medlineplus.gov/genetics/gene/hivep2 - Genetics
  2. SRD5A3 gene 
    ... 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition. Am J Med Genet A. 2021 ...
    https://medlineplus.gov/genetics/gene/srd5a3 - Genetics
  3. SHOX gene 
    ... M, Stekrova J. SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and ...
    https://medlineplus.gov/genetics/gene/shox - Genetics
  4. STAC3 gene 
    ... STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Hum Mutat. 2018 ...
    https://medlineplus.gov/genetics/gene/stac3 - Genetics
  5. GRIN2A gene 
    ... including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. ...
    https://medlineplus.gov/genetics/gene/grin2a - Genetics
  6. SEPTIN9 gene 
    ... Neesen J, Grisold W, Chance PF, Rehder H. Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a ...
    https://medlineplus.gov/genetics/gene/septin9 - Genetics
  7. MIR17HG gene 
    ... B, Boyar FZ. Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of ...
    https://medlineplus.gov/genetics/gene/mir17hg - Genetics