Johnson neuroectodermal syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0796002

JABL: A syndrome with variable expressivity characterized by alopecia with mild facial asymmetry and micrognathia which give the face its characteristic features, ear abnormalities with hearing loss, loss of the sense of smell, hypogonadism, dental caries, and occasional mental deficiency.

Download in:

View as