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Complex neurodevelopmental disorder
- ... JM Jr, Young JI, Mackay JP. The NuRD complex and macrocephaly associated neurodevelopmental disorders. Am J Med Genet C Semin Med Genet. ...
- ... 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 ...
- 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 ...
- ... umbilical hernia, and facial dysmorphism Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MINDS syndrome SKS Genetic Testing ...
- ... disorder in their family. CHD2 encephalopathy CHD2-related neurodevelopmental disorders Genetic Testing Registry: Developmental and epileptic encephalopathy 94 ...
- ... 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: ...
- 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 ...
- ... 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): ...
- ... Eichler EE. The genetic variability and commonality of neurodevelopmental disease. Am J Med Genet C Semin Med Genet. ...
- ... individuals can also have unusual facial features, a neurodevelopmental disorder called attention-deficit/hyperactivity disorder (ADHD), or autism ...