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Results 1 - 10 of 23 for Neurodevelopmental disorder with hypotonia brain abnormalities
  1. YWHAE gene 
    ... B. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse. Genet Med. 2023 Jul; ...
    https://medlineplus.gov/genetics/gene/ywhae - Genetics
  2. GRIN2B-related neurodevelopmental disorder 
    ... this condition.Less common features of GRIN2B-related neurodevelopmental disorder include structural brain abnormalities, an unusually small head size (microcephaly), impaired vision, ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
  3. 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
  4. CUL3-related neurodevelopmental disorder 
    ... condition that affects communication and social skills. Movement abnormalities can also occur in people with CUL3-related neurodevelopmental disorder. Affected individuals may have weak muscle tone (hypotonia) in childhood. In adulthood, they may develop involuntary ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  5. DLG4-related synaptopathy 
    ... this condition cannot speak. Affected individuals often have ... (atrophy) and abnormalities of the tissue connecting the left and right ...
    https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy - Genetics
  6. HIVEP2-related intellectual disability 
    ... affected individuals. Many people with the condition exhibit ... in the structure of the brain and an abnormally small brain and head size ( ...
    https://medlineplus.gov/.../hivep2-related-intellectual-disability - Genetics
  7. Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 
    ... such as sitting and walking), or autism spectrum disorder, which is a ... abnormalities of brain structures, such as the tissue that connects the ...
    https://medlineplus.gov/...thout-anomalies-of-the-brain-eye-or-heart - Genetics
  8. PURA syndrome 
    ... of the disorder in their family. PURA-related neurodevelopmental disorder PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Genetic Testing Registry: PURA-related ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  9. Vici syndrome 
    ... H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar;139(Pt 3):765-81. doi: ...
    https://medlineplus.gov/genetics/condition/vici-syndrome - Genetics
  10. 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
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