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Results 1 - 6 of 6 for Neurodevelopmental disorder with "hypotonia," facial "dysmorphism," brain abnormalities
Did you mean Neurodevelopmental disorder with "hypotonia," facial "dysmorphic," 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; ... syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth ... disabilities and brain abnormalities. Clin Genet. 2018 Feb;93(2):365-367. ...
    https://medlineplus.gov/genetics/gene/ywhae - Genetics
  2. Chromosome 2 
    ... at position q23.1 can cause MBD5-associated neurodevelopmental disorder ... and foot abnormalities. Most people with MAND also have features similar ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  3. Miller-Dieker syndrome 
    ... DH, Dobyns WB. Classical lissencephaly syndromes: does the face reflect the brain? ... Associated With Microdeletions and Microduplications of Chromosome 17p13. ...
    https://medlineplus.gov/genetics/condition/miller-dieker-syndrome - Genetics
  4. Cerebro-facio-thoracic dysplasia 
    ... half are unable to walk. Weak muscle tone (hypotonia) and difficulty feeding occur ... facial features common in cerebro-facio-thoracic dysplasia include ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
  5. Xia-Gibbs syndrome 
    ... or a thin upper lip. Other, less-common abnormalities involving the bones and skin include premature fusion of certain skull bones (craniosynostosis), unusually loose (lax) joints, and loose skin.Neurodevelopmental disorders can also occur in Xia-Gibbs syndrome. Some ...
    https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome - Genetics
  6. PACS1 syndrome 
    ... S, Martin C, Taylor C, Chung W. PACS1 Neurodevelopmental Disorder. 2020 Jul 16. In: Adam MP, Feldman J, ...
    https://medlineplus.gov/genetics/condition/pacs1-syndrome - Genetics