Seizures-scoliosis-macrocephaly Syndrome

About the Disease
Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome, also known as seizures-scoliosis-macrocephaly syndrome, is related to superficial spreading melanoma. An important gene associated with Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome is EXT2 (Exostosin Glycosyltransferase 2). Affiliated tissues include bone, skin and kidney, and related phenotypes are global developmental delay and delayed speech and language development

Common Targets
PAK1

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