Source:http://linkedlifedata.com/resource/umls/id/C0795906
JABL: A syndrome of congenital thrombocytopenia and Robin syndrome with distinctive facies (microcephaly, high forehead, downslanting palpebral fissures, blepharoptosis, telecanthus, broad nasal root, inverted U-shaped mouth, and malformed ears), dysplasia of the enamel, agenesis of the corpus and expressionless face); enamel hypoplasia, retarded growth and mental development, and variable renal, cardiac, and osseous defects.