Massive genetic data hunt aims to crack rare disease mysteries

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

* INCLUSION CRITERIA: To be eligible to participate in the website-based data collection portion, individuals must be known or suspected to have a genetic condition, or to be the relative of a person with a known or suspected genetic condition, and be willing to consent to and share the requested information with the study team. Adults unable to provide consent must have a Legally Authorized Representative \[LAR\] (who can provide evidence of this status by providing guardianship paperwork, which will be verified) be able to provide consent. To be eligible for the Clinical Center-based portion of this study, an individual must meet all of the following criteria: * Stated willingness to comply with all study procedures and availability for the duration of the study * Male or female, from age 0 to over 100 years of age (the NIH Clinical Center's age-based eligibility criteria will be followed for any individuals who come to the Clinical Center for participation such that individuals \<3 years of age will have a screening form submitted to the Pediatrics consult service, and admissions will follow current Clinical Center limits based on age such that admissions to 1NW generally have to be \> 2 years of age) * Either: * A person who is known or suspected to have a genetic condition based on medical and/or family history * A person who is a family member of a person known or suspected to have a genetic condition (and who is themselves not known or suspected to have a genetic condition) * Ability of subject (or Legally Authorized Representative \[LAR\], who can provide evidence of this status, as described above) to understand and the willingness to sign a written informed consent document. To be eligible for the virtual conversation portion of this study, an individual must meet all of the following criteria: * Stated willingness to comply with all study procedures and availability for the duration of the study * Either: * A person over 18 years of age who is known to have a genetic condition based on medical and/or family history * A parent or guardian of a person known to have a genetic condition (and who is themselves not known or suspected to have a genetic condition) * Ability of subject (or Legally Authorized Representative \[LAR\], who can provide evidence of this status, as described above) to understand and the willingness to sign a written informed consent document. EXCLUSION CRITERIA: Individuals who are pregnant will be excluded from the Clinical Center-based portion of the study. There are no other exclusionary criteria except that individuals will be excluded from participation in this study if they are unable or unwilling to participate. The PI/AI may decline to enroll a patient for reasons such as being medically unstable, residing in a hospital, or for any concerns arising after review of the laboratory and clinical data.