Diseases Studied
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All Diseases > Phelan-McDermid syndrome
Phelan-McDermid syndrome (PMS)
Alternative Names: 22q13 Deletion syndrome; SHANK3 deletion/mutation
Disease Category: Developmental Synaptopathies
Phelan-McDermid syndrome (PMS) is caused by a loss of a piece of chromosome 22 near the end of the chromosome at a location designated q13.3. The symptoms of PMS can vary from person to person but it is typically characterized by low muscle tone, global developmental delay/intellectual disability, motor skills delay, delayed or absent speech and autism spectrum disorder (ASD).
Research groups studying this disease
Developmental Synaptopathies
Developmental Synaptopathies Consortium (DSC)
Phelan-McDermid Syndrome Foundation
Aims to improve quality of life of those affected by Phelan-McDermid syndrome (PMS) by providing support, accelerating research, and raising awareness.