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JABL: Duplication of the long arm of chromosome 7 with multiple abnormalities and delayed mental and physical development. Infants with dup(7)(q31-7qter) have large fontanels, prominent forehead, short downslanting palpebral fissures, long philtrum, thin vermilion border, downcurved upper lip, and micrognathia; those with dup(7)(q32-7qter) also have hypotonia, epicanthal folds, scoliosis, hip dislocation, and strabismus; and patients with inv dup(7)(q21.2-q36) have hydrocephalus, depressed nasal bridge, low-set ears, microretrognathia, and short neck. The phenotype varies with the size of the duplicated segment. Duplication of large segments usually results in early mortality.
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| umls:relation |
http://linkedlifedata.com/resource/umls/relation/R01048625,
http://linkedlifedata.com/resource/umls/relation/R01048626,
http://linkedlifedata.com/resource/umls/relation/R128719317,
http://linkedlifedata.com/resource/umls/relation/R128719318,
http://linkedlifedata.com/resource/umls/relation/R03246982
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