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Results 1 - 10 of 21 for dysmorphic
  1. 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
  2. HIVEP2-related intellectual disability 
    ... delay and intellectual disability and mild physical abnormalities (dysmorphic features). Early symptoms of the condition include weak ... are associated with developmental delay, intellectual disability, and dysmorphic features. Neurogenetics. 2016 Jul;17(3):159-64. ...
    https://medlineplus.gov/.../hivep2-related-intellectual-disability - Genetics
  3. 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
  4. Chromosome 13 
    ... Lyonnet S, Desjardins L, Turleau C, Doz F. Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients ... B, Boyar FZ. Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of ...
    https://medlineplus.gov/genetics/chromosome/13 - Genetics
  5. 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
  6. Malignant hyperthermia 
    ... STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Hum Mutat. 2018 ...
    https://medlineplus.gov/genetics/condition/malignant-hyperthermia - Genetics
  7. Recombinant 8 syndrome 
    ... F Jr, Smith AC, Sujansky E. Clinicopathologic and dysmorphic findings in recombinant chromosome 8 syndrome. Hum Pathol. ...
    https://medlineplus.gov/genetics/condition/recombinant-8-syndrome - Genetics
  8. Hereditary neuralgic amyotrophy 
    ... Neesen J, Grisold W, Chance PF, Rehder H. Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a ...
    https://medlineplus.gov/.../hereditary-neuralgic-amyotrophy - Genetics
  9. 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
  10. Retinoblastoma 
    ... Lyonnet S, Desjardins L, Turleau C, Doz F. Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients ...
    https://medlineplus.gov/genetics/condition/retinoblastoma - Genetics
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