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Results 31 - 40 of 72 for Megalencephaly
  1. 1q21.1 microdeletion 
    ... 1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 ...
    https://medlineplus.gov/genetics/condition/1q211-microdeletion - Genetics
  2. Lujan syndrome 
    ... tall, thin body and an unusually large head (macrocephaly). Affected individuals also have a long, thin face ...
    https://medlineplus.gov/genetics/condition/lujan-syndrome - Genetics
  3. Achondroplasia 
    ... motion at the elbows, and an enlarged head (macrocephaly) with a prominent forehead. Fingers are typically short ...
    https://medlineplus.gov/genetics/condition/achondroplasia - Genetics
  4. Hypochondroplasia 
    ... Other characteristic features include a a large head (macrocephaly), limited range of motion at the elbows, a ...
    https://medlineplus.gov/genetics/condition/hypochondroplasia - Genetics
  5. Klippel-Trenaunay syndrome 
    ... syndrome is one of several overgrowth syndromes, including megalencephaly-capillary malformation syndrome, that are caused by mutations ...
    https://medlineplus.gov/.../condition/klippel-trenaunay-syndrome - Genetics
  6. Cantú syndrome 
    ... legs. Most affected individuals have a large head (macrocephaly) and distinctive facial features that are described as " ...
    https://medlineplus.gov/genetics/condition/cantu-syndrome - Genetics
  7. 47,XYY syndrome 
    ... can include increased belly fat, a large head (macrocephaly), unusually large teeth (macrodontia), flat feet (pes planus), ...
    https://medlineplus.gov/genetics/condition/47xyy-syndrome - Genetics
  8. Mucopolysaccharidosis type II 
    ... with this disorder often have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-ii - Genetics
  9. CACNA1A gene 
    ... deletion syndrome include an unusually large head size (macrocephaly), tall stature, intellectual disability, seizures, ataxia, and other ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  10. Neurofibromatosis type 1 
    ... pressure (hypertension), short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature ...
    https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1 - Genetics
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