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Results 41 - 50 of 959 for Cerebral hypoplasia
  1. Aicardi syndrome 
    ... retina).People with Aicardi syndrome often have additional brain abnormalities, including asymmetry between the two sides of the ... that carries information from the eye to the brain. These eye abnormalities may cause blindness in affected individuals.Some people ...
    https://medlineplus.gov/genetics/condition/aicardi-syndrome - Genetics
  2. AKT3 gene 
    ... cause a brain malformation called isolated hemimegalencephaly. This brain abnormality is an enlargement of one of the two ... However, unlike the mutations that cause those other abnormalities of brain growth, the genetic changes related to isolated hemimegalencephaly ...
    https://medlineplus.gov/genetics/gene/akt3 - Genetics
  3. 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
  4. 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
  5. 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
  6. 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
  7. Guide to Understanding Hemangiomas (Children's Craniofacial Association) - PDF  
    Benign Tumors/Children ... Benign Tumors ... Birthmarks/Specifics ... Birthmarks ... Children's Craniofacial Association ... PDF
    https://ccakids.org/.../uploads/2022/01/Hemangioma-guide_2018.pdf - External Health Links
  8. What Is Mitochondrial Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscular Dystrophy Association ... PDF
    https://www.mda.org/...tochondrial_Disease_Fact_Sheet_March_2020.pdf - External Health Links
  9. Ohtahara Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... 10 days). Some cases are caused by a brain abnormality, metabolic disorder, or gene mutation, while other cases ...
    https://www.ninds.nih.gov/.../disorders/ohtahara-syndrome - External Health Links
  10. 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
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