Source:http://linkedlifedata.com/resource/umls/id/C0795842
JABL: Duplication of the long arm of chromosome 11 with delayed growth and mental development, craniofacial asymmetry, microcephaly, dysmorphic facies, strabismus, musculoskeletal abnormalities, imperforate anus, cryptorchidism, and congenital heart defects. Some patients exhibits symptoms of cri-du-chat or chromosome 5p deletion syndrome (a peculiar crying sound resembling that of a suffering kitten observed in infants with craniofacial abnormalities that include microcephaly, round facies, hypertelorism, upslanting palpebral fissures, epicanthus, large frontal sinus, and other anomalies). The phenotype is variable and is related to the size of duplication. Mental retardation ranges from moderate to severe.