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Results 1 - 10 of 54 for Neurologic
  1. CLPB deficiency 
    ... aciduria type VII 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome MEGCANN MGA7 MGCA7 Genetic Testing ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  2. Mabry syndrome 
    ... with mental retardation syndrome Hyperphosphatasia with seizures and neurologic deficit Genetic Testing Registry: Hyperphosphatasia with intellectual disability ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics
  3. Triple A syndrome 
    ... during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. ... syndrome Achalasia-alacrima syndrome Alacrima-achalasia-adrenal insufficiency neurologic disorder Allgrove syndrome Genetic Testing Registry: Glucocorticoid deficiency ...
    https://medlineplus.gov/genetics/condition/triple-a-syndrome - Genetics
  4. DLG4-related synaptopathy 
    ... 62 SHINE syndrome sleep disturbances, hypotonia, intellectual disability, neurologic disorder, and epilepsy syndrome Genetic Testing Registry: Intellectual ...
    https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy - Genetics
  5. Autosomal dominant optic atrophy and cataract 
    ... Optic atrophy type 3 Optic atrophy, cataract, and neurologic disorder Genetic Testing Registry: Optic atrophy 3 Autosomal ...
    https://medlineplus.gov/...somal-dominant-optic-atrophy-and-cataract - Genetics
  6. FOLR1 gene 
    ... null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment. Neurology. 2009 Dec 15; ...
    https://medlineplus.gov/genetics/gene/folr1 - Genetics
  7. Hyperprolinemia 
    ... benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance. J Child Neurol. 2001 ...
    https://medlineplus.gov/genetics/condition/hyperprolinemia - Genetics
  8. Allan-Herndon-Dudley syndrome 
    ... linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. J Child Neurol. 2005 Oct;20(10): ...
    https://medlineplus.gov/.../condition/allan-herndon-dudley-syndrome - Genetics
  9. Wolfram syndrome 
    ... B, Cano A, Labauge P, Paquis-Flucklinger V. Neurologic features and genotype-phenotype correlation in Wolfram syndrome. ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
  10. SMARCAL1 gene 
    ... Kooy D, Okano H, Armstrong DL, Boerkoel CF. Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental ...
    https://medlineplus.gov/genetics/gene/smarcal1 - Genetics
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