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| skos:definition |
JABL: Duplication of the short arm of chromosome 2 with psychomotor retardation, characteristic facies (prominent forehead, frontal upsweep of hair, hypertelorism, micrognathia, and nose and ear malformations), narrow palate, dolichostenomelia, finger and toe abnormalities, and genital anomalies. Less frequently occurring abnormalities include neural tube defects anencephaly, encephalocele, and spina bifida), bronchial and pulmonary hypoplasia, diaphragmatic hernia, neuroblastoma, a genital anomalies, and congenital heart defects.
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| umls:relation |
http://linkedlifedata.com/resource/umls/relation/R01048530,
http://linkedlifedata.com/resource/umls/relation/R01048531,
http://linkedlifedata.com/resource/umls/relation/R128720301,
http://linkedlifedata.com/resource/umls/relation/R128720302,
http://linkedlifedata.com/resource/umls/relation/R03246959
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