| umls-concept:C0796031 | skos:definition | JABL: Mental retardation, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities. The phenotype varies and not all features are present in individual cases. Occasional marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia). | lld:umls |
