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Results 1 - 10 of 10 for Neurodevelopmental disorder with hypotonia characteristic brain abnormalities
  1. HIVEP2-related intellectual disability 
    ... fingers with tapered ends, although there is no characteristic pattern of ... in the structure of the brain and an abnormally small brain and head size ( ...
    https://medlineplus.gov/.../hivep2-related-intellectual-disability - Genetics
  2. STXBP1 encephalopathy 
    ... I, Tabata H, Nagata KI. MUNC18-1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development. Acta Neuropathol Commun. 2017 Nov 30;5( ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  3. Vici syndrome 
    Vici syndrome is a severe disorder that ... called agenesis of the corpus callosum, in which the tissue that connects the ...
    https://medlineplus.gov/genetics/condition/vici-syndrome - Genetics
  4. Chromosome 2 
    ... is thought to account for many of the characteristic features of 2q37 deletion syndrome, such ... neurodevelopmental disorder (MAND). MAND is a condition that affects ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  5. 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
  6. ATN1 gene 
    ... People with CHEDDA can have weak muscle tone (hypotonia), recurring seizures (epilepsy), vision and hearing problems, distinctive facial features, and skeletal abnormalities. Many affected individuals have brain malformations. The ATN1 gene variants that cause CHEDDA ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
  7. 3q29 microdeletion syndrome 
    ... possible features of 3q29 microdeletion syndrome include gastrointestinal ... of characteristic facial features, including a long, narrow face; a ...
    https://medlineplus.gov/.../condition/3q29-microdeletion-syndrome - Genetics
  8. Timothy syndrome 
    ... genes, resulting in the facial, dental, and neurological abnormalities in Timothy syndrome.Other variants in ... This condition is considered to have an ...
    https://medlineplus.gov/genetics/condition/timothy-syndrome - Genetics
  9. Chromosome 5 
    ... About This Health Condition In a few cases, ... near the center of the brain. In each case, the affected individual had extra ...
    https://medlineplus.gov/genetics/chromosome/5 - Genetics
  10. 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