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Results 11 - 20 of 49 for Megalencephaly
  1. PPP2R5D-related intellectual disability 
    ... intellectual disability have an unusually large head size (macrocephaly), and some have other unusual facial features, including ... variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics. 2016 Jan;17(1): ...
    https://medlineplus.gov/.../ppp2r5d-related-intellectual-disability - Genetics
  2. Lennox-Gastaut syndrome 
    ... of Lennox-Gastaut syndrome. LGS Genetic Testing Registry: Macrocephaly and epileptic encephalopathy Lennox-Gastaut syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY PubMed Arzimanoglou A, French J, ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  3. 9q22.3 microdeletion 
    ... of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving ... syndrome that are present early in life, including macrocephaly and skeletal abnormalities. For basal cell carcinomas and ...
    https://medlineplus.gov/genetics/condition/9q223-microdeletion - Genetics
  4. Cowden syndrome 
    ... signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte- ... the other features of Cowden syndrome, such as macrocephaly and intellectual disability.Rarely, Cowden syndrome and Cowden- ...
    https://medlineplus.gov/genetics/condition/cowden-syndrome - Genetics
  5. Gorlin syndrome 
    ... of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving ... syndrome that are present early in life, including macrocephaly and skeletal abnormalities. For basal cell carcinomas and ...
    https://medlineplus.gov/genetics/condition/gorlin-syndrome - Genetics
  6. Canavan disease 
    ... muscle tone (hypotonia), an unusually large head size (macrocephaly), and irritability. Feeding and swallowing difficulties, seizures, and ... R. Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem. J Child Neurol. 2003 Nov;18( ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics
  7. CUL3-related neurodevelopmental disorder 
    ... affected individuals have a larger than normal head (macrocephaly). Many people with CUL3-related neurodevelopmental disorder have ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  8. 2-hydroxyglutaric aciduria 
    ... seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin ...
    https://medlineplus.gov/.../condition/2-hydroxyglutaric-aciduria - Genetics
  9. Camurati-Engelmann disease 
    ... which can lead to an abnormally large head (macrocephaly) and lower jaw (mandible), a prominent forehead (frontal ...
    https://medlineplus.gov/.../condition/camurati-engelmann-disease - Genetics
  10. FG syndrome 
    ... a large head compared to body size (relative macrocephaly). Other health problems have also been reported, including ...
    https://medlineplus.gov/genetics/condition/fg-syndrome - Genetics
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