UNIVERSITY OF WASHINGTON

The information archived in ClinVar is freely available to users and organizations to ensure the broadest utility to the medical genetics community. To that end, we work with submitters and other archives to ensure that data structures are designed to facilitate data exchange so that data can be shared in both directions with willing organizations... Two brothers with aspartylglucosaminuria demonstrate progression of facial features with age. One sib at age two years (A), three years (B), four years (C), six years (D), and ten years (E). Second sib at age four months (F), one year (G), two years (H), five years (I), and nine years (J).

Primary location: Bethesda United States