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Results 71 - 80 of 233 for Cerebral hypoplasia
  1. DOCK6 gene 
    ... and malformations of the hands and feet. Neurological abnormalities, such as brain or eye malformations and intellectual disability, are more ...
    https://medlineplus.gov/genetics/gene/dock6 - Genetics
  2. EARS2 gene 
    ... and high lactate (LTBL), a condition characterized by abnormalities in certain brain regions, including the thalamus and the brainstem (the ...
    https://medlineplus.gov/genetics/gene/ears2 - Genetics
  3. HRAS gene 
    ... called nevus sebaceous (described above) in addition to abnormalities of the brain, eyes, or bones. Problems with these other systems ...
    https://medlineplus.gov/genetics/gene/hras - Genetics
  4. FAT4 gene 
    ... condition characterized by intellectual disability, hearing loss, skeletal abnormalities, and a brain malformation called periventricular heterotopia. The FAT4 gene mutations ...
    https://medlineplus.gov/genetics/gene/fat4 - Genetics
  5. HSD17B4 gene 
    ... of white matter is described as leukodystrophy. Abnormal brain development and leukodystrophy likely underlie the neurological abnormalities that occur in D-bifunctional protein deficiency. More ...
    https://medlineplus.gov/genetics/gene/hsd17b4 - Genetics
  6. SPR gene 
    ... the production of dopamine and serotonin in the brain. The shortage of these neurotransmitters causes the movement abnormalities and other features of sepiapterin reductase deficiency.Sepiapterin ...
    https://medlineplus.gov/genetics/gene/spr - Genetics
  7. DCTN1 gene 
    ... been found to cause Perry syndrome. This progressive brain disease is characterized by a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and ...
    https://medlineplus.gov/genetics/gene/dctn1 - Genetics
  8. SRD5A3 gene 
    ... cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain. 2010 Nov;133(11):3210-20. doi: 10. ...
    https://medlineplus.gov/genetics/gene/srd5a3 - Genetics
  9. WASHC5 gene 
    ... have Dandy-Walker malformation, which is a structural abnormality of the part of the brain that coordinates movement (cerebellum). Additional signs and symptoms ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  10. CHD8 gene 
    ... Excess neurons and overgrowth in parts of the brain are associated with ASD, but the relationship between these abnormalities and the behavioral features of the disorder is ...
    https://medlineplus.gov/genetics/gene/chd8 - Genetics
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