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Results 1 - 10 of 13 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. 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
  3. 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
  4. 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
  5. 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
  6. Recombinant 8 syndrome 
    ... F Jr, Smith AC, Sujansky E. Clinicopathologic and dysmorphic findings in recombinant chromosome 8 syndrome. Hum Pathol. 1984 Nov;15(11):1080-4. doi: 10.1016/s0046-8177(84)80252-x. Citation on PubMed
    https://medlineplus.gov/genetics/condition/recombinant-8-syndrome - Genetics
  7. Burn-McKeown syndrome 
    ... condition. Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance BMKS Choanal atresia-hearing loss-cardiac defects- ... C, Wagget J, Bray R, Goodship J. New dysmorphic syndrome with choanal atresia in siblings. Clin Dysmorphol. ...
    https://medlineplus.gov/genetics/condition/burn-mckeown-syndrome - Genetics
  8. Snijders Blok-Campeau syndrome 
    ... Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies SNIBCPS National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../condition/snijders-blok-campeau-syndrome - Genetics
  9. MN1 C-terminal truncation syndrome 
    ... the disorder in their family. CEBALID Craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and ...
    https://medlineplus.gov/.../mn1-c-terminal-truncation-syndrome - Genetics
  10. Léri-Weill dyschondrosteosis 
    ... M, Stekrova J. SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and ...
    https://medlineplus.gov/.../condition/leri-weill-dyschondrosteosis - Genetics
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