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Results 1 - 10 of 14 for Neurodevelopmental abnormality
  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. STXBP1 gene 
    ... I, Tabata H, Nagata KI. MUNC18-1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development. ...
    https://medlineplus.gov/genetics/gene/stxbp1 - Genetics
  3. MBD5 gene 
    ... gene have been found to cause MBD5-associated neurodevelopmental disorder ... and foot abnormalities. Most people with MAND also have features similar ...
    https://medlineplus.gov/genetics/gene/mbd5 - Genetics
  4. RERE gene 
    ... have been found to cause a condition called neurodevelopmental disorder with or ... Abnormalities of other body systems, including the eyes, heart, ...
    https://medlineplus.gov/genetics/gene/rere - Genetics
  5. CUL3 gene 
    ... mutations) can cause a condition called CUL3-related neurodevelopmental disorder. This condition affects neurological and physical development. The CUL3 gene variants that cause CUL3-related neurodevelopmental disorder can lead to the production of nonfunctional ...
    https://medlineplus.gov/genetics/gene/cul3 - Genetics
  6. MECP2 gene 
    ... The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep. 2010 Apr;12(2): ... Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004 Apr;10(2):118-28. ...
    https://medlineplus.gov/genetics/gene/mecp2 - Genetics
  7. MN1 gene 
    ... MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 ... Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. Am J Hum Genet. 2020 Jan 2;106( ...
    https://medlineplus.gov/genetics/gene/mn1 - Genetics
  8. PNPLA6 gene 
    ... NTE protein and encoding gene in development and neurodevelopmental toxicity. Chem Biol Interact. 2016 Nov 25;259( ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics
  9. SOX11 gene 
    ... novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. J ... S, Mizuguchi T, Miyake N, Matsumoto N. Genetic abnormalities in a large cohort of Coffin-Siris syndrome ...
    https://medlineplus.gov/genetics/gene/sox11 - Genetics
  10. SYNGAP1 gene 
    ... Heron D, Kluger G, Depienne C. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. ...
    https://medlineplus.gov/genetics/gene/syngap1 - Genetics
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