Source:http://linkedlifedata.com/resource/umls/id/C0265428
JABL: Duplication of the short arm of chromosome 9 with psychomotor retardation, hypertelorism, deep-set eyes, downslanting palpebral fissures, large nose, short upper lip, down-curved corners of the mouth, cup-shaped ears, kyphoscoliosis, small hands and feet, characteristic dermatoglyphic patterns, and cryptorchidism.