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Results 1 - 10 of 40 for Central hypotonia
  1. 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
  2. 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
  3. 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
  4. PHF21A gene 
    ... 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/gene/phf21a - Genetics
  5. PPP2R5D gene 
    ... Citation on PubMed or Free article on PubMed Central Shang L, ... macrocephaly, hypotonia, and autism. Neurogenetics. 2016 Jan;17(1):43- ...
    https://medlineplus.gov/genetics/gene/ppp2r5d - Genetics
  6. PURA gene 
    ... 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 Weber J, Bao H, Hartlmuller C, Wang Z, ...
    https://medlineplus.gov/genetics/gene/pura - Genetics
  7. AHDC1 gene 
    ... AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006. Citation on PubMed or Free article on PubMed Central Yang H, Douglas G, Monaghan KG, Retterer K, ...
    https://medlineplus.gov/genetics/gene/ahdc1 - Genetics
  8. SLC3A1 gene 
    ... SLC3A1 gene and the neighboring PREPL gene cause hypotonia-cystinuria syndrome. In addition to cystinuria, people with this condition have low muscle tone (hypotonia) and poor feeding, which usually improves by early ...
    https://medlineplus.gov/genetics/gene/slc3a1 - Genetics
  9. ATN1 gene 
    ... can cause a very rare condition called congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) syndrome. ... People with CHEDDA can have weak muscle tone (hypotonia), recurring seizures (epilepsy), vision and hearing problems, distinctive ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
  10. KCNK9 gene 
    ... This condition is characterized by weak muscle tone (hypotonia) from birth that can affect the ability to ... excitability. Impairment of neuron function likely underlies the hypotonia, intellectual disability, and developmental problems characteristic of KCNK9 ...
    https://medlineplus.gov/genetics/gene/kcnk9 - Genetics
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