Source:http://linkedlifedata.com/resource/umls/id/C1838654
JABL: Dwarfism, chondrodysplasia, pseudohermaphroditism, microcephaly, hypoplasia of the cerebellar vermis, and retinal retinal defects in association with skeletal, ocular, and other abnormalities. One of the two sisters in the original report was mentally retarded.