Researchers are working across the globe to study DeSanto-Shinawi Syndrome. Join Us.

RARE-X PATIENT REGISTRY ACCESS FOR RESEARCHERS

The DESSH Foundation has partnered with Rare-X to develop a patient registry. The registry is a collection of deidentified, patient-owned data provided by patients or caregivers affected by DeSanto-Shinawi Syndrome . The goal of this registry is to support quantitative research aimed at a better understanding of DESSH and developing treatments for the DESSH community. Clinicians, clinical researchers, and data scientists interested in collaborating can learn more or request data access below.

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MEDICAL ARTICLES

OMIM

WAC Gene

Desanto Shinawi Syndrome

An Online Catalog of Human Genes and Genetic Disorders

European Journal of Human Genetics

WAC haploinsufficiency causes an ID syndrome

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits

Journal of Medical Genetics - The BMJ

WAC loss of function mutation

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate