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| skos:definition |
JABL: Duplication of the long arm of chromosome 15. Some cases have symptoms which are similar to those in Prader-Willi and Angelman syndromes but most exhibit a wide spectrum of manifestations which range from asymptomatic cases to variable combinations of skeletal, neurological, gastrointestinal, psychological, and other abnormalities in association with developmental delay. Phenotypic expression and degree of severe are related to the length of the duplicated segment.
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| umls:relation |
http://linkedlifedata.com/resource/umls/relation/R01048378,
http://linkedlifedata.com/resource/umls/relation/R01048379,
http://linkedlifedata.com/resource/umls/relation/R128719773,
http://linkedlifedata.com/resource/umls/relation/R128719774,
http://linkedlifedata.com/resource/umls/relation/R03247028
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