Source:http://linkedlifedata.com/resource/umls/id/C0795888
JABL: Deletion of a part of the short arm of chromosome X (Xp22) associated with short stature, chondrodysplasia punctata, ichthyosis, mental deficiency, and elements of Kallmann syndrome (a disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting hypogonadism and agenesis or hypoplasia of the olfactory bulb with olfactory disorders).