Source:http://linkedlifedata.com/resource/umls/id/C0795913
JABL: Meso-ectodermal dysplasia similar to that in the Lenz-Majewski syndrome marked by a large head, exophthalmos, broad nasal root, anteverted nostrils, large auricles, thick lips, micrognathia, postnatal growth retardation, emaciation, mental retardation, sparse hair, enamel hypoplasia, hyperelastic loose skin, and skeletal abnormalities