Clinical Research Directory

Inclusion Criteria: To participate in the study, patients must meet the following criteria: 1. Male or non-pregnant female; age 6 to less than 18. 2. Females of childbearing potential (WOCBP) must have a negative urine pregnancy test (UPT) at all visits. 3. Presence of 1. At least one pathogenic genetic variant in a biological parent, which is annotated as pathogenic in at least one public database, such as dbSNP, ClinVar, VEP (variant effect predictor), etc.; OR 2. Presence of unexplained disease, illness, trait, or phenotype. 4. Approval is at the sole discretion of the sponsor. Exclusion Criteria: Patients who meet any of the following criteria will be excluded from study participation: 1. Unwillingness or inability to participate in the study. 2. Unwillingness or inability to provide assent as per inclusion criterion #1, including those who lack the capacity to provide assent and will obtain 18 years of age prior to completion of the study. 3. WOCBP a with positive pregnancy test at enrollment or at any visit.