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Results 81 - 90 of 959 for Cerebral hypoplasia
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. Achondroplasia 
    ... can lead to increased head size and related brain abnormalities. Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 15,000 to 40,000 newborns. ... and maintenance of bone and brain tissue. Two specific variants in the FGFR3 gene ...
    https://medlineplus.gov/genetics/condition/achondroplasia - Genetics
  7. Epilepsy-aphasia spectrum 
    ... condition is unknown. Some affected individuals have a brain abnormality that may contribute to the condition. Researchers suspect that changes in other, unidentified genes may also be associated with ... in the brain. Signaling through these receptors is involved in normal ...
    https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum - Genetics
  8. STAMBP gene 
    ... before birth may cause microcephaly and the underlying brain abnormalities found in people with microcephaly-capillary malformation syndrome. ...
    https://medlineplus.gov/genetics/gene/stambp - Genetics
  9. Mitochondrial Disorders From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Muscle Disorders/Specifics ... Muscle Disorders ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases
    https://www.ninds.nih.gov/.../disorders/mitochondrial-disorders - External Health Links
  10. Leigh Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... National Institute of Neurological ...
    https://www.ninds.nih.gov/.../mitochondrial-disorders#leigh-syndrome - External Health Links
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