Smith-Kingsmore Syndrome

About the Disease
Smith-Kingsmore Syndrome, also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, is related to alacrima, achalasia, and mental retardation syndrome and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Smith-Kingsmore Syndrome is MTOR (Mechanistic Target Of Rapamycin Kinase). Affiliated tissues include brain, pons and bone marrow, and related phenotypes are macrocephaly and intellectual disability

Common Targets
G2475

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