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Results 1 - 8 of 8 for PURA Syndrome
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  1. PURA syndrome 
    PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such ... affected individuals are unable to speak. People with PURA syndrome may learn to walk later than their peers; ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  2. PURA gene 
    ... PURA gene mutations have been found to cause PURA syndrome, a condition characterized by intellectual disability, delayed development ... function leads to the signs and symptoms of PURA syndrome, researchers suspect that it may alter normal brain ...
    https://medlineplus.gov/genetics/gene/pura - Genetics
  3. Developmental Disabilities (National Library of Medicine)  
    What are developmental disabilities? Developmental disabilities are conditions that are usually present at birth. They can affect a child's growth and ...
    https://medlineplus.gov/developmentaldisabilities.html - Health Topics
  4. Speech and Communication Disorders (National Library of Medicine)  
    Many disorders can affect our ability to speak and communicate. They range from saying sounds incorrectly to being completely unable to speak or understand ...
    https://medlineplus.gov/speechandcommunicationdisorders.html - Health Topics
  5. 5q31.3 microdeletion syndrome 
    ... contributes to the development of 5q31.3 microdeletion syndrome. PURA chromosome 5 Additional Information from NCBI Gene: NRG2 ... due to 5q31.3 microdeletion Genetic Testing Registry: PURA-related severe neonatal ... Disorders (NORD) PubMed Bonaglia ...
    https://medlineplus.gov/.../condition/5q313-microdeletion-syndrome - Genetics
  6. Chromosome 5 
    ... Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 6;95( ...
    https://medlineplus.gov/genetics/chromosome/5 - Genetics
  7. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 
    ... R, Ergun-Longmire B, Maclaren N, Krohn KJ, Pura M, Schalke B, Strobel P, Leite MI, Battelino ... patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med. 2010 Feb 15; ...
    https://medlineplus.gov/...inopathy-candidiasis-ectodermal-dystrophy - Genetics
  8. AIRE gene 
    ... R, Ergun-Longmire B, Maclaren N, Krohn KJ, Pura M, Schalke B, Strobel P, Leite MI, Battelino ... patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med. 2010 Feb 15; ...
    https://medlineplus.gov/genetics/gene/aire - Genetics