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Results 71 - 80 of 614 for Cerebral hypoplasia
  1. Mosaic variegated aneuploidy syndrome 
    ... and low-set ears. Some affected individuals have brain abnormalities, the most common of which is called Dandy- ...
    https://medlineplus.gov/.../mosaic-variegated-aneuploidy-syndrome - Genetics
  2. FOLR1 gene 
    ... this tissue, a condition known as leukodystrophy. These brain abnormalities caused by a lack of folate lead to the intellectual disability, movement problems, and recurrent seizures (epilepsy) typical of cerebral folate transport deficiency. More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/folr1 - Genetics
  3. Beta-ureidopropionase deficiency 
    ... small head size (microcephaly); they may also have brain abnormalities that can be seen with medical imaging. Deterioration of the optic nerve, which carries visual information from the eyes to the brain, can lead to vision loss in this condition. ...
    https://medlineplus.gov/.../beta-ureidopropionase-deficiency - Genetics
  4. Enlarged parietal foramina 
    ... health problems; however, scalp defects, seizures, and structural brain abnormalities have been noted in a small percentage of affected people. Pressure applied to the openings can lead to severe headaches, ... an increased risk of brain damage or skull fractures if any trauma is ...
    https://medlineplus.gov/.../condition/enlarged-parietal-foramina - Genetics
  5. L1CAM gene 
    ... in males. People with L1 syndrome often have brain abnormalities, intellectual disability, and movement problems. The L1CAM gene mutations that cause this condition lead to an L1 protein that cannot ... and development of the brain, leading to the signs and symptoms of L1 ...
    https://medlineplus.gov/genetics/gene/l1cam - Genetics
  6. Kleefstra syndrome 
    ... People with Kleefstra syndrome may also have structural brain abnormalities, congenital heart defects, genitourinary abnormalities, seizures, and a ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  7. DHCR24 gene 
    ... that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms. The mutations that cause this condition change single ... Because the brain relies solely on cellular production for cholesterol, it ...
    https://medlineplus.gov/genetics/gene/dhcr24 - Genetics
  8. Shprintzen-Goldberg syndrome 
    ... features of Shprintzen-Goldberg syndrome include heart or brain abnormalities, weak muscle tone (hypotonia) in infancy, and a ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
  9. RAB18 gene 
    ... deficiency) of RAB18 activity leads to eye problems, brain abnormalities, and other features of Warburg micro syndrome. More ...
    https://medlineplus.gov/genetics/gene/rab18 - Genetics
  10. ANKRD11 gene 
    ... facial features and intellectual disability. Many also have brain abnormalities and features of autism spectrum disorders, which are ...
    https://medlineplus.gov/genetics/gene/ankrd11 - Genetics
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