Unique provides support, information and networking to families affected by rare chromosome and gene disorders. Patient guides available in English and Spanish.
An online catalog containing information on all known mendelian disorders and over 16,000 genes. Enter clinical phenotypic findings in search fields.
GeneReviews is an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
Provides information on conditions included in Wisconsin’s newborn screening panel.