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Results 51 - 60 of 233 for Cerebral hypoplasia
  1. TSPYL1 gene 
    ... development of the male reproductive system and the brain, including the brainstem. Abnormalities of brainstem function, particularly involving breathing and heart ...
    https://medlineplus.gov/genetics/gene/tspyl1 - Genetics
  2. SEPSECS gene 
    ... been identified in people with a disorder of brain development called pontocerebellar hypoplasia. The major features of this condition include delayed ...
    https://medlineplus.gov/genetics/gene/sepsecs - Genetics
  3. VRK1 gene 
    ... been identified in people with a disorder of brain development called pontocerebellar hypoplasia. The major features of this condition include delayed ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics
  4. FGFR1 gene 
    ... by the growth of noncancerous tumors and other abnormalities in the brain, eyes, and skin. The variants that cause ECCL ... syndrome. People with this rare condition have an abnormality in their brain development called holoprosencephaly. They also have a malformation ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  5. FOXC1 gene 
    ... have been reported in a few people with abnormalities of brain development. Mutations that change single protein building blocks ( ... the cerebellum, which is the part of the brain that is involved in coordinating movement. Additionally, ... ...
    https://medlineplus.gov/genetics/gene/foxc1 - Genetics
  6. CASK gene 
    ... 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/genetics/gene/cask - Genetics
  7. NKX2-1 gene 
    ... formation or migration, which may underlie the movement abnormalities characteristic of brain-lung-thyroid syndrome. More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/nkx2-1 - Genetics
  8. C19orf12 gene 
    ... a link between problems with lipid homeostasis and brain iron accumulation or how these abnormalities might contribute to the features of this disorder. ...
    https://medlineplus.gov/genetics/gene/c19orf12 - Genetics
  9. HPSE2 gene 
    ... that the genetic changes may lead to an abnormality in this brain region that may account for the symptoms of ...
    https://medlineplus.gov/genetics/gene/hpse2 - Genetics
  10. COL4A1 gene 
    ... and symptoms involving fragile blood vessels. COL4A1-related brain small-vessel disease is characterized by stroke and eye abnormalities. Most of the identified COL4A1 gene mutations that ...
    https://medlineplus.gov/genetics/gene/col4a1 - Genetics
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