This website provides information on patients with PSMD12 gene, including clinical data, molecular data, management and research options.

The syndrome caused by point disrupting mutations or deletions of the PSMD12 gene is called Stankiewicz-Isidor syndrome (OMIM # 617516). It is a multisystem disorder characterized by developmental delay/intellectual disability, variable congenital malformations (renal, cardiac, limbs, ophthalmologic anomalies, feeding difficulties, deafness) and subtle dysmorphic facial features.

This website was created to share and collect information about the clinical spectrum, management options and research projects in order to gather more knowledge and provide better treatment of patients with mutations in the PSMD12 gene.

Sébastien Küry, DVM, PhD, CHU de Nantes, Service de Génétique Médicale, Nantes, France, sebastien.kury@chu-nantes.fr

Pawel Stankiewicz, MD, PhD Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA, pawels@bcm.edu

Bertrand Isidor, MD., PhD, CHU de Nantes, Service de Génétique Médicale, Nantes, France, bertrand.isidor@chu-nantes.fr