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Results 1 - 10 of 29 for Neurodevelopmental disorder with seizures brain abnormalities
  1. 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
  2. Smith-Kingsmore syndrome 
    ... is larger than normal (macrocephaly), intellectual disability, and seizures. In ... brain abnormalities may also be present in affected individuals. For ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  3. HIVEP2-related intellectual disability 
    ... affected individuals. Many people with the condition exhibit ... include seizures; recurrent ear infections; and eye disorders, such as ...
    https://medlineplus.gov/.../hivep2-related-intellectual-disability - Genetics
  4. 17q12 duplication 
    ... gross motor skills such sitting, standing, and walking. Seizures are also ... and brain. Some individuals with this chromosomal change have subtle ...
    https://medlineplus.gov/genetics/condition/17q12-duplication - Genetics
  5. 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
  6. 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
  7. CUL3-related neurodevelopmental disorder 
    ... tends to go away after childhood. Rarely, recurrent seizures (epilepsy), congenital heart abnormalities, or genitourinary abnormalities occur in people with CUL3-related neurodevelopmental disorder. CUL3-related neurodevelopmental disorder is a rare disorder, ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  8. 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
  9. STXBP1 gene 
    ... 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/gene/stxbp1 - Genetics
  10. 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
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