This syndrome is a clinically recognizable, multiple malformation syndrome with distinct facial features and is often associated with a diaphragmatic hernia that can lead to neonatal death.
Williams-Beuren syndrome (WBS, MIM #194050) is a clinically recognizable and recurrent condition associated with a variably-sized hemizygous deletion within band 11.23 of the long arm of chromosome 7, detectable by FISH [ 1, 2].
However, because genome-wide association studies are predicated upon the common disease-common variant hypothesis, this approach is not ideal for the study of rare variants, particularly in complex conditions in which rare variants at multiple loci may be needed to produce a clinically recognizable phenotype [ 17, 18].
It is theoretically defined as a clinically recognizable state of increased vulnerability to stressors, characterized by a decreased reserve capacity to maintain homeostasis resulting from an age-related cumulative decline across multiple physiologic systems [ 1, 2].
Frailty is conceptually defined as a clinically recognizable state of older adults with increased vulnerability, resulting from age-associated declines in physiologic reserve and function across multiple organ systems, such that the ability to cope with everyday or acute stressors is compromised.
An excess of mildly affected or asymptomatic fathers was found to transmit the disease in a clinically recognizable form [ 30– 30].
In a similar vein, the "leprosy" referred to in the Bible both the tzaraath of the Hebrew Bible and the lepra of the Greek New Testament is not described in a clinically recognizable manner and probably was any of a number of severe chronic skin diseases.
Because CWD has occurred in a limited geographic area for decades, an adequate number of people may not have been exposed to the CWD agent to result in a clinically recognizable human disease.
This work has confirmed the existence of a clinically recognizable SATB2-associated syndrome and has provided evidence that the target region for deleterious mutations affecting this gene may be much larger than previously thought.
