Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 180 for Central hypotonia
  1. Xia-Gibbs syndrome 
    ... Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome - Genetics
  2. Gillespie syndrome 
    ... Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  3. 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
  4. 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
  5. 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
  6. 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
  7. PPP2R5D-related intellectual disability 
    ... Citation on PubMed or Free article on PubMed Central Shang L, ... macrocephaly, hypotonia, and autism. Neurogenetics. 2016 Jan;17(1):43- ...
    https://medlineplus.gov/.../ppp2r5d-related-intellectual-disability - Genetics
  8. PURA syndrome 
    ... De novo mutations in PURA are associated with hypotonia and developmental delay. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000356. doi: 10.1101/mcs.a000356. Citation on PubMed or Free article on PubMed Central White MK, Johnson EM, Khalili K. Multiple roles ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  9. Cohen syndrome 
    ... small head size (microcephaly), and weak muscle tone (hypotonia). Other features common in this condition include worsening ... not show signs and symptoms of the condition. Hypotonia, obesity, and prominent incisors Norio syndrome Obesity-hypotonia ...
    https://medlineplus.gov/genetics/condition/cohen-syndrome - Genetics
  10. KCNK9 imprinting syndrome 
    ... a rare condition characterized by weak muscle tone (hypotonia) from birth. As a result, affected infants have ... excitability. Impairment of neuron function likely underlies the hypotonia, intellectual disability, and developmental problems characteristic of KCNK9 ...
    https://medlineplus.gov/genetics/condition/kcnk9-imprinting-syndrome - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next