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Results 1 - 10 of 21 for Abnormal cognitive process
  1. Progressive supranuclear palsy 
    ... assistance.Progressive supranuclear palsy is also characterized by abnormal eye movements, which typically develop several years after ... the protein's normal structure and function. However, abnormal tau is also found in affected individuals without ...
    https://medlineplus.gov/.../condition/progressive-supranuclear-palsy - Genetics
  2. CHARGE syndrome 
    ... neck, controlling muscle movement and transmitting sensory information. Abnormal function of certain cranial nerves can cause swallowing ... CHARGE syndrome is tracheoesophageal fistula, which is an abnormal connection (fistula) between the esophagus and the trachea. ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
  3. DNMT1 gene 
    ... As a result of these mutations, methylation is abnormal, which affects the expression of multiple genes. Maintenance ... result of the DNMT1 gene mutations, methylation is abnormal and maintenance of the neurons that make up ...
    https://medlineplus.gov/genetics/gene/dnmt1 - Genetics
  4. Frontotemporal dementia with parkinsonism-17 
    ... down eye movement (vertical gaze palsy) and rapid abnormal movements of both eyes (saccades). The worldwide prevalence ... and function of tau. The defective protein forms abnormal clumps within neurons and other brain cells. However, ...
    https://medlineplus.gov/...ntotemporal-dementia-with-parkinsonism-17 - Genetics
  5. AFF4 gene 
    ... The fusion gene provides instructions for making an abnormal protein that combines features of the proteins produced from AFF4 and KMT2A. The abnormal protein likely disrupts the transcription elongation function of ...
    https://medlineplus.gov/genetics/gene/aff4 - Genetics
  6. Wolf-Hirschhorn syndrome 
    ... mottled or dry skin; skeletal abnormalities, such as abnormal curvature of the spine (scoliosis and kyphosis); dental ... genes (including CPLX1) may cause seizures or other abnormal electrical activity in the brain. The loss of ...
    https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome - Genetics
  7. CREBBP gene 
    ... Other features of the condition likely result from abnormal development of other systems.Deletion of genetic material ... from those of Rubinstein-Taybi syndrome, described above), abnormal thumbs, and rigid joints (arthrogryposis). Some affected individuals ...
    https://medlineplus.gov/genetics/gene/crebbp - Genetics
  8. Kearns-Sayre syndrome 
    ... viewed under a microscope, these cells usually appear abnormal. The abnormal muscle cells contain an excess of structures called ...
    https://medlineplus.gov/genetics/condition/kearns-sayre-syndrome - Genetics
  9. Spinocerebellar ataxia type 36 
    ... gene disrupts the normal structure of NOP56 mRNA. Abnormal NOP56 mRNA molecules form clumps called RNA foci ... K, Abe K. Characteristic RNA foci of the abnormal hexanucleotide GGCCUG repeat expansion in spinocerebellar ataxia type ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-36 - Genetics
  10. Fragile X-associated tremor/ataxia syndrome 
    ... reasons, the premutation leads to the overproduction of abnormal FMR1 mRNA that contains the expanded repeat region. ... Simon TJ, Tassone F, Ferrer E, Rivera SM. Abnormal trajectories in cerebellum and brainstem volumes in carriers ...
    https://medlineplus.gov/...agile-x-associated-tremor-ataxia-syndrome - Genetics
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