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Results 41 - 50 of 614 for Cerebral hypoplasia
  1. GNAQ gene 
    ... or pink birthmark called a port-wine birthmark, brain abnormalities, and increased pressure in the eye (glaucoma) or ... can also cause port-wine birthmarks without the brain or eye abnormalities that are often associated with Sturge-Weber syndrome ( ...
    https://medlineplus.gov/genetics/gene/gnaq - Genetics
  2. TUBB4A gene 
    ... dystonia 4 do not have hypomyelination or other brain abnormalities like those that occur in people with TUBB4A- ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  3. RNAse T2-deficient leukoencephalopathy 
    ... unknown how loss of this protein results in brain abnormalities and neurological problems. Researchers have noted that the ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics
  4. EXOSC3 gene 
    ... this mutation tend to have somewhat less severe brain abnormalities than people with other EXOSC3 gene mutations. Changes ... how these alterations lead to the problems with brain development and loss of motor neurons characteristic of PCH1B. More About This Health Condition ... Baas F, van Dijk T. EXOSC3 Pontocerebellar Hypoplasia. 2014 Aug 21 [updated 2020 Sep 24]. In: ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  5. TUBB4A-related leukodystrophy 
    ... H-ABC.H-ABC is characterized by particular brain abnormalities, including hypomyelination. In addition, tissue in certain regions ... particularly in the putamen, cerebellum, and white matter. Abnormalities in these brain regions underlie the movement, speech, and learning problems ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  6. Aicardi-Goutières syndrome 
    ... begins prenatally. Slow growth (intrauterine growth retardation) and brain abnormalities, especially brain calcification, may be seen on ultrasound imaging. These ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  7. CRPPA gene 
    ... that this problem with neuronal migration causes a brain abnormality called cobblestone lissencephaly, in which the surface of the brain lacks the normal folds and grooves and instead ...
    https://medlineplus.gov/genetics/gene/crppa - Genetics
  8. Autosomal dominant hyper-IgE syndrome 
    ... Darnell D, Davis J, Puck JM, Holland SM. Brain abnormalities in patients with hyperimmunoglobulin E syndrome. Pediatrics. 2007 ...
    https://medlineplus.gov/.../autosomal-dominant-hyper-ige-syndrome - Genetics
  9. Fanconi anemia 
    ... Less frequent problems include gastrointestinal abnormalities, heart defects, brain abnormalities, and hearing loss. People with Fanconi anemia may ...
    https://medlineplus.gov/genetics/condition/fanconi-anemia - Genetics
  10. Chromosome 18 
    ... 18p is typically not reduced, except when severe brain abnormalities are present.Some people have a chromosome 18 ...
    https://medlineplus.gov/genetics/chromosome/18 - Genetics
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