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Results 1 - 9 of 9 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. 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
  7. 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
  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. Gillespie syndrome 
    ... in Gillespie syndrome result from hypoplasia of the cerebellum, which is the part of the brain that ... from the other copy of the gene. Aniridia, cerebellar ataxia, and mental retardation Aniridia-cerebellar ataxia-intellectual ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics