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Results 1 - 10 of 11 for Cerebellar malformation
  1. TUBB2B gene 
    ... cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. Eur Radiol. 2017 Dec;27(12):5080-5092. ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  2. MN1 C-terminal truncation syndrome 
    ... part of the brain that coordinates movement (the cerebellum ). This malformation, called atypical rhombencephalosynapsis, is characterized by tissue loss ...
    https://medlineplus.gov/.../mn1-c-terminal-truncation-syndrome - Genetics
  3. Dandy-Walker malformation 
    ... individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The ...
    https://medlineplus.gov/genetics/condition/dandy-walker-malformation - Genetics
  4. FOXC1 gene 
    ... been associated with a structural abnormality of the cerebellum known as Dandy-Walker malformation. FKHL7 forkhead box protein C1 forkhead, drosophila, homolog- ...
    https://medlineplus.gov/genetics/gene/foxc1 - Genetics
  5. Lissencephaly with cerebellar hypoplasia 
    ... Ross ME, Swanson K, Dobyns WB. Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics. 2001 Oct;32(5):256-63. doi: ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  6. WASHC5 gene 
    ... syndrome because it affects craniofacial (head and face), cerebellar (brain), and cardiovascular (heart) development. People with 3C syndrome often have Dandy-Walker malformation, which is a structural abnormality of the part ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  7. VLDLR-associated cerebellar hypoplasia 
    ... this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. This brain malformation leads to problems with balance and coordination (ataxia) ...
    https://medlineplus.gov/.../vldlr-associated-cerebellar-hypoplasia - Genetics
  8. CASK-related intellectual disability 
    ... Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008 Sep;40(9):1065-7. ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  9. CASK gene 
    ... Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008 Sep;40(9):1065-7. ...
    https://medlineplus.gov/genetics/gene/cask - Genetics
  10. Horizontal gaze palsy with progressive scoliosis 
    ... seen with medical imaging. This imaging shows distinctive malformations that include underdevelopment of brain structures called the pons and cerebellar peduncles and a notch or cleft in the ...
    https://medlineplus.gov/...tal-gaze-palsy-with-progressive-scoliosis - Genetics
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