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Results 81 - 90 of 233 for Cerebral hypoplasia
  1. DHH gene 
    ... XY gonadal dysgenesis with minifascicular neuropathy. The nerve abnormalities affect nerves connecting the brain and spinal cord to muscles and sensory cells ...
    https://medlineplus.gov/genetics/gene/dhh - Genetics
  2. ATN1 gene 
    ... and hearing problems, distinctive facial features, and skeletal abnormalities. Many affected individuals have brain malformations. The ATN1 gene variants that cause CHEDDA ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
  3. EPM2A gene 
    ... the death of neurons, which interferes with the brain's normal functions. The degeneration of neurons likely underlies the seizures, movement abnormalities, intellectual decline, and other neurological problems seen with ...
    https://medlineplus.gov/genetics/gene/epm2a - Genetics
  4. NHLRC1 gene 
    ... the death of neurons, which interferes with the brain's normal functions. The degeneration of neurons likely underlies the seizures, movement abnormalities, intellectual decline, and other neurological problems seen with ...
    https://medlineplus.gov/genetics/gene/nhlrc1 - Genetics
  5. ATP1A3 gene 
    ... disrupts the electrical activity of neurons in the brain. However, it is unclear how a malfunctioning Na+/K+ ATPase causes the movement abnormalities seen in people with rapid-onset dystonia parkinsonism. ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  6. IFIH1 gene 
    ... Aicardi-Goutières syndrome. This disorder is characterized by abnormalities of the immune system, skin, and brain. Some affected individuals have calcium deposits in parts ...
    https://medlineplus.gov/genetics/gene/ifih1 - Genetics
  7. PGK1 gene 
    ... or cell death. It is unclear why this abnormality preferentially affects red blood cells and brain cells in some people and muscle cells in ...
    https://medlineplus.gov/genetics/gene/pgk1 - Genetics
  8. RERE gene 
    ... eye, or heart (NEDBEH). This condition primarily affects brain development, causing intellectual disability, delayed development, or autism spectrum disorder, which is a condition that affects communication and social interaction. Abnormalities of other body systems, including the eyes, heart, ...
    https://medlineplus.gov/genetics/gene/rere - Genetics
  9. OTX2 gene 
    ... the optic nerves, the pituitary gland, and other brain structures. These problems with development lead to the major features of septo-optic dysplasia, including eye abnormalities, underdevelopment of the pituitary gland (pituitary hypoplasia), and ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  10. MAPT gene 
    ... and emotion. The loss of cells in these brain regions leads to the major features of FTDP-17, including changes in personality and behavior, speech and language abnormalities, and problems with movement. More About This Health ...
    https://medlineplus.gov/genetics/gene/mapt - Genetics
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