Schwartz-Jampel-Aberfeld Syndrome

About the Disease
Schwartz-Jampel Syndrome, Type 1, also known as schwartz-jampel syndrome, is related to severe cutaneous adverse reaction and stuve-wiedemann syndrome 1, and has symptoms including muscle weakness An important gene associated with Schwartz-Jampel Syndrome, Type 1 is HSPG2 (Heparan Sulfate Proteoglycan 2). Affiliated tissues include bone, eye and skeletal muscle, and related phenotypes are intellectual disability and gait disturbance

Common Targets
HSPG2

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