Source:http://linkedlifedata.com/resource/umls/id/C0796190
JABL: A syndrome of mental retardation, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis. The phenotype is variable and is believed to represent six different types: 1. Bardet-Biedl syndrome with coloboma or aniridia. 2. Recessively inherited syndrome of sexual infantilism, short stature, coloboma, preaxial polydactyly, and obesity. 3. Dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation> 4 Cytogenetically proven Rubinstein-Taybi syndrome. 5. Early lethal familial form resembling Ranting-Majewski syndrome. 6. Coloboma-zygodactyly-clefting syndrome.