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Results 1 - 10 of 47 for Brain malformation
  1. TUBB3 gene 
    ... a condition called cortical dysplasia, complex, with other brain malformations 1 (CDCBM1). The brain abnormalities associated with this ... and progressive muscle stiffness (spasticity) in affected individuals. Brain malformations in CDCBM1 result from abnormal development of the ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  2. TUBB2B gene 
    ... eyelids (ptosis). In addition, affected individuals have a brain malformation called polymicrogyria, in which the surface of the ... typically lead to intellectual disability in affected individuals. Brain malformations commonly associated with TUBB2B gene mutations result from ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  3. AKT3 gene 
    ... involving the AKT3 gene can also cause a brain malformation called isolated hemimegalencephaly. This brain abnormality is an ... CA. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron. 2012 Apr 12;74(1):41-8. ...
    https://medlineplus.gov/genetics/gene/akt3 - Genetics
  4. DYNC1H1 gene 
    ... intellectual disability. These affected individuals often have a brain malformation called polymicrogyria. Normally, the surface of the brain has many ridges or folds, called gyri. In ...
    https://medlineplus.gov/genetics/gene/dync1h1 - Genetics
  5. SPECC1L gene 
    ... malformations that can cause difficulty breathing or swallowing, brain malformations, distinct facial features, and genital abnormalities in males. ...
    https://medlineplus.gov/genetics/gene/specc1l - Genetics
  6. FAT4 gene 
    ... intellectual disability, hearing loss, skeletal abnormalities, and a brain malformation called periventricular heterotopia. The FAT4 gene mutations that ...
    https://medlineplus.gov/genetics/gene/fat4 - Genetics
  7. ARX gene 
    ... mutations also cause several syndromes that include structural brain malformations. These include Proud syndrome, which is characterized by agenesis of the corpus callosum as well as abnormal male genitalia, and ... the brain tissue (hydranencephaly) and abnormal male genitalia.For unknown ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  8. ARID1B gene 
    ... features, including intellectual disability, severe speech problems, and brain malformations. The ARID1B gene variants associated with ASD result in a reduced amount of the ARID1B protein or impair the protein's function in ... brain development, but the specific relationship between the variants ...
    https://medlineplus.gov/genetics/gene/arid1b - Genetics
  9. FOXG1 gene 
    ... starting before birth, which appears to underlie the brain malformations and severe developmental problems characteristic of FOXG1 syndrome. ...
    https://medlineplus.gov/genetics/gene/foxg1 - Genetics
  10. MID1 gene 
    ... spaced eyes (ocular hypertelorism), difficulty breathing or swallowing, brain malformations, distinct facial features, and genital abnormalities in males. ...
    https://medlineplus.gov/genetics/gene/mid1 - Genetics
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