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Results 1 - 10 of 19 for Dysmorphic features
  1. HIVEP2-related intellectual disability 
    ... delay and intellectual disability and mild physical abnormalities (dysmorphic features). Early symptoms of the condition include weak muscle ... are associated with developmental delay, intellectual disability, and dysmorphic features. Neurogenetics. 2016 Jul;17(3):159-64. doi: ...
    https://medlineplus.gov/.../hivep2-related-intellectual-disability - Genetics
  2. HIVEP2 gene 
    ... 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: ...
    https://medlineplus.gov/genetics/gene/hivep2 - Genetics
  3. Malignant hyperthermia 
    ... STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Hum Mutat. 2018 Dec; ...
    https://medlineplus.gov/genetics/condition/malignant-hyperthermia - Genetics
  4. 3p deletion syndrome 
    ... 3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region. Am ...
    https://medlineplus.gov/genetics/condition/3p-deletion-syndrome - Genetics
  5. STAC3 gene 
    ... STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Hum Mutat. 2018 Dec; ...
    https://medlineplus.gov/genetics/gene/stac3 - Genetics
  6. STAC3 disorder 
    ... STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Hum Mutat. 2018 Dec; ...
    https://medlineplus.gov/genetics/condition/stac3-disorder - Genetics
  7. GRIN2A gene 
    ... including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. Epilepsia. ...
    https://medlineplus.gov/genetics/gene/grin2a - Genetics
  8. MIR17HG gene 
    ... B, Boyar FZ. Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ ...
    https://medlineplus.gov/genetics/gene/mir17hg - Genetics
  9. Aspartylglucosaminuria 
    ... Arvio MA, Peippo MM, Arvio PJ, Kaariainen HA. Dysmorphic facial features in aspartylglucosaminuria patients and carriers. Clin Dysmorphol. 2004 ...
    https://medlineplus.gov/genetics/condition/aspartylglucosaminuria - Genetics
  10. Chromosome 13 
    ... B, Boyar FZ. Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ ...
    https://medlineplus.gov/genetics/chromosome/13 - Genetics
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