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"Potocki-Lupski" syndrome
Did you mean "Potocki-lupus" 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 ...
- ... 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 ...
- ... 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 ...
- ... of this disorder. More About This Health Condition Potocki-Lupski syndrome results from a duplication of a small piece ... RAI1, underlies many of the characteristic features of Potocki-Lupski syndrome. All of the duplications known to cause the ...
- ... 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- ...
- 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. ...