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Results 1 - 7 of 7 for linked brainstem
  1. CASK-related intellectual disability 
    ... Kutsche K. 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): ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  2. CASK gene 
    ... Kutsche K. 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): ...
    https://medlineplus.gov/genetics/gene/cask - Genetics
  3. Spinal and bulbar muscular atrophy 
    ... that is connected to the spinal cord (the brainstem).Spinal and bulbar muscular atrophy mainly affects males ... AR This condition is inherited in an X-linked pattern. A condition is considered X-linked if ...
    https://medlineplus.gov/.../spinal-and-bulbar-muscular-atrophy - Genetics
  4. Dandy-Walker malformation 
    ... affected individuals, a fluid-filled cavity between the brainstem and the cerebellum (the fourth ventricle) and the ... the skull that contains the cerebellum and the brainstem (the posterior fossa) are abnormally large. These abnormalities ...
    https://medlineplus.gov/genetics/condition/dandy-walker-malformation - Genetics
  5. Joubert syndrome 
    ... the brain, including the cerebellar vermis and the brainstem. The molar tooth sign got its name because ... of Joubert syndrome are inherited in an X-linked recessive pattern. In these cases, the causative gene ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  6. Leigh syndrome 
    ... ability to balance and coordinates movement; and the brainstem, which connects the brain to the spinal cord ... DNA, Leigh syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition ...
    https://medlineplus.gov/genetics/condition/leigh-syndrome - Genetics
  7. Fragile X-associated tremor/ataxia syndrome 
    ... E, Rivera SM. Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation. ...
    https://medlineplus.gov/...agile-x-associated-tremor-ataxia-syndrome - Genetics