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Results 1 - 6 of 6 for "Potocki-Lupski" syndrome
Did you mean "Potocki-lupus" syndrome?
  1. Potocki-Lupski syndrome 
    Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication) of a small piece of ... known as 17p11.2 duplication syndrome.Infants with Potocki-Lupski syndrome may have weak muscle tone (hypotonia) and swallowing ...
    https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome - Genetics
  2. Yuan-Harel-Lupski syndrome 
    ... a combination of features of two other disorders, Potocki-Lupski syndrome and type 1A Charcot-Marie-Tooth disease.The ... signs and symptoms are similar to those of Potocki-Lupski syndrome.Other signs and symptoms of YUHAL syndrome begin ...
    https://medlineplus.gov/.../condition/yuan-harel-lupski-syndrome - Genetics
  3. RAI1 gene 
    ... to underlie many of the major features of Potocki-Lupski syndrome. This condition is characterized by delayed development, mild ... cell.All of the duplications known to cause Potocki-Lupski syndrome contain the RAI1 gene. Studies suggest that the ...
    https://medlineplus.gov/genetics/gene/rai1 - Genetics
  4. Chromosome 17 
    ... of this disorder. More About This Health Condition Potocki-Lupski syndrome results from a duplication of a small piece ... responsible for many of the characteristic features of Potocki-Lupski syndrome. All of the duplications that are known to ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  5. Smith-Magenis syndrome 
    ... of this segment causes a related condition called Potocki-Lupski syndrome.) Occasionally the deletion is larger or smaller. All ... Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes. J Pediatr Genet. 2015 Sep;4(3):159- ...
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome - Genetics
  6. Developmental Disabilities (National Library of Medicine)  
    Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...
    https://medlineplus.gov/developmentaldisabilities.html - Health Topics