Source:http://linkedlifedata.com/resource/umls/id/C0795861
JABL: Duplication of the short arm of chromosome 16 with severe psychomotor delay, rounded face, sparse hair, malformed ears, hypertelorism, cleft palate, a thin upper lip, and renal dysgenesis. The severity of expression varies with the type of duplication. Spontaneous abortion usually takes place in severe cases and about 50% die in infancy.