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Results 71 - 80 of 364 for Cerebral hypoplasia
  1. Malonyl-CoA decarboxylase deficiency 
    ... Huijmans JG, Lequin MH, Verheijen FW, Mancini GM. Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency. ...
    https://medlineplus.gov/.../malonyl-coa-decarboxylase-deficiency - Genetics
  2. Pitt-Hopkins syndrome 
    ... the same direction (strabismus), short stature, and minor brain abnormalities. Affected individuals may also have small hands and ...
    https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome - Genetics
  3. 5q31.3 microdeletion syndrome 
    ... Many individuals with 5q31.3 microdeletion syndrome have brain abnormalities, several of which are caused by reduced production ...
    https://medlineplus.gov/.../condition/5q313-microdeletion-syndrome - Genetics
  4. VLDLR-associated cerebellar hypoplasia 
    ... cerebellar ataxia with mental retardation Autosomal recessive cerebellar hypoplasia with cerebral gyral simplification Cerebellar disorder, nonprogressive, with mental retardation ...
    https://medlineplus.gov/.../vldlr-associated-cerebellar-hypoplasia - Genetics
  5. Xia-Gibbs syndrome 
    ... with Xia-Gibbs syndrome, imaging tests of the brain show abnormalities in the brain's structure. For example, the tissue connecting the ...
    https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome - Genetics
  6. CASK-related intellectual disability 
    ... that carry information from the eyes to the brain (optic nerve hypoplasia), breakdown of the light-sensing tissue at the ... K. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008 ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  7. Hajdu-Cheney syndrome 
    ... skull, pushing into the lower parts of the brain. These abnormalities can lead to severe neurological problems, including headaches, abnormal vision and balance, a buildup of fluid in the brain (hydrocephalus), abnormal breathing, and sudden death.The signs ...
    https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome - Genetics
  8. Lissencephaly with cerebellar hypoplasia 
    Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  9. Cyclic vomiting syndrome 
    ... to the disorder. These factors include changes in brain function, hormonal abnormalities, and gastrointestinal problems. Many researchers believe that cyclic ...
    https://medlineplus.gov/genetics/condition/cyclic-vomiting-syndrome - Genetics
  10. 16p11.2 duplication 
    ... Viehoever A, Schlaggar BL, Shimony JS, Shinawi M. Brain MRI abnormalities and spectrum of neurological and clinical findings in ...
    https://medlineplus.gov/genetics/condition/16p112-duplication - Genetics
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