Observed clinical phenotypes were recorded at the time of examination and rated as normal, mild, moderate, or severe based on the following criteria.

Without the cohort of patients identified by newborn screening, this clinical phenotype would likely not have been identified.

None of the other genes highly expressed in brain have associated diseases or clinical phenotypes.

However, most researchers are reluctant to accept the existence of a causal relationship between enzyme functionality and clinical phenotype.

This is the first gene that has been definitively shown to directly cause a clinical phenotype when deleted.

Similarly, there are limited data regarding the clinical phenotype or natural history of prostate cancer associated with specific candidate loci.

Few differences have yet been observed in the clinical phenotypes of patients with mutation of one gene or the other.

Researchers have recently documented a positive correlation of dental abnormalities to clinical phenotype.

The degree of impairment is based on which clinical phenotype is present (how many chains are affected).

The clinical phenotype of 3q29 microdeletion syndrome is variable.