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Results 1 - 10 of 258 for Central hypotonia
  1. Congenital Central Hypoventilation Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Autonomic Nervous System Disorders/Specifics ... Autonomic Nervous System ...
    https://rarediseases.info.nih.gov/...entral-hypoventilation-syndrome - National Institutes of Health
  2. Xia-Gibbs syndrome 
    ... Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome - Genetics
  3. Gillespie syndrome 
    ... Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  4. Au-Kline syndrome 
    ... Citation on PubMed or Free article on PubMed Central Okamoto N, Matsumoto F, Shimada K, Satomura K. New MCA/MR syndrome with generalized hypotonia, congenital hydronephrosis, and characteristic face. Am J Med ...
    https://medlineplus.gov/genetics/condition/au-kline-syndrome - Genetics
  5. UNC80 deficiency 
    ... Citation on PubMed or Free article on PubMed Central Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS. UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics
  6. UNC80 gene 
    ... Citation on PubMed or Free article on PubMed Central Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS. UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to ...
    https://medlineplus.gov/genetics/gene/unc80 - Genetics
  7. Central core disease 
    ... muscles of the face, profound low muscle tone (hypotonia), and serious or life-threatening breathing problems.Many people with central core disease also have an increased risk of ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
  8. PIGA gene 
    ... seizures known as infantile spasms, weak muscle tone (hypotonia), distinctive facial features, and abnormalities of the brain and spinal cord (central nervous system) and other body systems. Less severely ...
    https://medlineplus.gov/genetics/gene/piga - Genetics
  9. MAOA gene 
    ... Citation on PubMed or Free article on PubMed Central Whibley A, Urquhart J, Dore J, Willatt L, Parkin G, Gaunt L, Black G, Donnai D, Raymond FL. Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements. Eur J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/maoa - Genetics
  10. Potocki-Shaffer syndrome 
    ... Citation on PubMed or Free article on PubMed Central Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS. A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. Am J Med Genet A. 2013 Jan;161A( ...
    https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome - Genetics
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