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Results 1 - 10 of 13 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. 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
  5. SRD5A3-congenital disorder of glycosylation 
    ... 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition. Am J Med Genet A. 2021 ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - 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. 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
  10. 3p deletion syndrome 
    ... 3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region. ...
    https://medlineplus.gov/genetics/condition/3p-deletion-syndrome - Genetics
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