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Results 1 - 10 of 21 for Complex neurodevelopmental disorder
  1. Snijders Blok-Campeau syndrome 
    ... JM Jr, Young JI, Mackay JP. The NuRD complex and macrocephaly associated neurodevelopmental disorders. Am J Med Genet C Semin Med Genet. ...
    https://medlineplus.gov/.../condition/snijders-blok-campeau-syndrome - Genetics
  2. CUL3 gene 
    ... suspect that each variant that causes CUL3-related neurodevelopmental disorder affects the tagging of specific proteins by the E3 ubiquitin ligase complex. So, each variant could interfere with the breakdown ...
    https://medlineplus.gov/genetics/gene/cul3 - Genetics
  3. MBD5 gene 
    The MBD5 gene is one of a family of genes called the methyl-CpG-binding domain (MBD) genes. These genes provide instructions for making proteins that help ...
    https://medlineplus.gov/genetics/gene/mbd5 - Genetics
  4. Smith-Kingsmore syndrome 
    ... umbilical hernia, and facial dysmorphism Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MINDS syndrome SKS Genetic Testing ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  5. CHD2 myoclonic encephalopathy 
    ... disorder in their family. CHD2 encephalopathy CHD2-related neurodevelopmental disorders Genetic Testing Registry: Developmental and epileptic encephalopathy 94 ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  6. MECP2 gene 
    ... The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep. 2010 Apr;12(2):127- ... Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004 Apr;10(2):118-28. doi: ...
    https://medlineplus.gov/genetics/gene/mecp2 - Genetics
  7. Angelman syndrome 
    Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and ...
    https://medlineplus.gov/genetics/condition/angelman-syndrome - Genetics
  8. STXBP1 gene 
    ... KI. MUNC18-1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development. Acta ... JR, Moller RS, Weckhuysen S. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016 Mar 8;86(10): ...
    https://medlineplus.gov/genetics/gene/stxbp1 - Genetics
  9. 16p12.2 microdeletion 
    ... Eichler EE. The genetic variability and commonality of neurodevelopmental disease. Am J Med Genet C Semin Med Genet. ...
    https://medlineplus.gov/genetics/condition/16p122-microdeletion - Genetics
  10. MTOR gene 
    ... individuals can also have unusual facial features, a neurodevelopmental disorder called attention-deficit/hyperactivity disorder (ADHD), or autism ...
    https://medlineplus.gov/genetics/gene/mtor - Genetics
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