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Results 21 - 25 of 25 for Neurodevelopmental disorder with hypotonia brain abnormalities
  1. SYNGAP1-related intellectual disability 
    ... pushing synapses to develop too early. The resulting abnormalities disrupt the synaptic changes in the ... gene in each cell is sufficient to cause the disorder. Almost all cases result from new mutations in ...
    https://medlineplus.gov/.../syngap1-related-intellectual-disability - Genetics
  2. 15q11-q13 duplication syndrome 
    ... at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders. PLoS Genet. 2016 May 6;12(5):e1005993. ...
    https://medlineplus.gov/.../condition/15q11-q13-duplication-syndrome - Genetics
  3. PACS1 syndrome 
    ... S, Martin C, Taylor C, Chung W. PACS1 Neurodevelopmental Disorder. 2020 Jul 16. In: Adam MP, Feldman J, ...
    https://medlineplus.gov/genetics/condition/pacs1-syndrome - Genetics
  4. Williams Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Genetic Disorders/Specifics ... Genetic Disorders ... Developmental Disabilities/Specifics ... Developmental Disabilities ... Genetic and Rare Diseases Information Center ...
    https://rarediseases.info.nih.gov/diseases/7891/williams-syndrome - External Health Links
  5. Peroxisomal acyl-CoA oxidase deficiency 
    ... of myelin-containing tissue (white matter) in the brain and spinal cord; loss of white matter is described as leukodystrophy. Leukodystrophy is likely involved in the development of the neurological abnormalities that occur in peroxisomal acyl-CoA oxidase deficiency. ...
    https://medlineplus.gov/.../peroxisomal-acyl-coa-oxidase-deficiency - Genetics
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