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Results 1 - 10 of 25 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. Williams Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Genetic Disorders/Specifics ... Genetic Disorders ... Developmental Disabilities/Specifics ... Developmental Disabilities ... National Institute of Neurological Disorders ...
    https://www.ninds.nih.gov/.../disorders/williams-syndrome - External Health Links
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