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Results 1 - 10 of 49 for Hypoplasia of the brainstem
  1. TSPYL1 gene 
    ... reproductive system and the brain, including the brainstem. Abnormalities of brainstem function, particularly involving breathing and heart rate, are ...
    https://medlineplus.gov/genetics/gene/tspyl1 - Genetics
  2. CASK-related intellectual disability 
    ... X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008 Sep;40(9): ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  3. CASK gene 
    ... X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008 Sep;40(9): ...
    https://medlineplus.gov/genetics/gene/cask - Genetics
  4. Sudden infant death with dysgenesis of the testes syndrome 
    ... between the brain and the voicebox (larynx).The brainstem abnormalities lead to death in the first year of ...
    https://medlineplus.gov/...th-with-dysgenesis-of-the-testes-syndrome - Genetics
  5. EARS2 gene 
    ... and high lactate (LTBL), a condition characterized by abnormalities in certain brain regions, including the thalamus and the brainstem (the part of the brain that connects to ...
    https://medlineplus.gov/genetics/gene/ears2 - Genetics
  6. Hypomyelination with brainstem and spinal cord involvement and leg spasticity 
    ... seen using magnetic resonance imaging (MRI). These characteristic abnormalities typically involve specific regions (called tracts) within the brainstem and spinal cord, especially the pyramidal tract, lateral ...
    https://medlineplus.gov/...pinal-cord-involvement-and-leg-spasticity - Genetics
  7. Neurofibromatosis Type 1 (For Parents) (Nemours Foundation)  
    ... lait spots, lisch nodules, scoliosis, optic gliomas, skeletal abnormalities, head circumference, audiometry, amniocentesis, amnios, auditory brainstem implant, learning disabilities, CD1Genetic Disorders, CD1Neurology, CD1MAP, CD1Dermatology
    https://kidshealth.org/en/parents/nf.html - External Health Links
  8. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
    ... the brain known as the cerebrum and cerebellum. Abnormalities can also be seen in other regions of the brain, including the brainstem, which is the part that connects to the ...
    https://medlineplus.gov/...nd-brainstem-involvement-and-high-lactate - Genetics
  9. DARS1 gene 
    ... leg spasticity (HBSL). This condition is characterized by abnormalities of the nervous system's white matter, usually involving particular regions of the spinal cord and brainstem (the region of the brain that connects to ...
    https://medlineplus.gov/genetics/gene/dars1 - Genetics
  10. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 
    ... seen using magnetic resonance imaging (MRI). These characteristic abnormalities typically involve particular parts of the white matter of the brain and specific regions (called tracts) within the brainstem and spinal cord, especially the pyramidal tract and ...
    https://medlineplus.gov/...al-cord-involvement-and-lactate-elevation - Genetics
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