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Results 1 - 7 of 7 for Cerebellar malformation
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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