{"iri":"http://lmss.sali.org/RBm4FfOtNNc2YXqnz3Pkqce","id":"RBm4FfOtNNc2YXqnz3Pkqce","label":"Fragile X Syndrome","definition":"Fragile X Syndrome is a genetic disorder caused by a mutation on the FMR1 gene located on the X chromosome. This mutation leads to a lack of the fragile X mental retardation protein (FMRP), which is crucial for normal brain development.","prefLabels":[],"altLabels":["FXS","Fragile X Mental Retardation Syndrome"],"examples":[],"notes":[],"sources":["https://www.ssa.gov/disability/professionals/bluebook/10.00-MultipleBody-Adult.htm"],"branch":{"iri":"http://lmss.sali.org/R7L5eLIzH0CpOUE74uJvSjL","label":"Legal Entity"},"parents":[{"iri":"http://lmss.sali.org/R8LxIR1bsgFd3td2G24G3mq","id":"R8LxIR1bsgFd3td2G24G3mq","label":"Congenital Disorders that Affect Multiple Body Systems"}],"children":[],"relations":[],"url":"https://lmss.io/tag/RBm4FfOtNNc2YXqnz3Pkqce/","source":{"repo":"sali-legal/LMSS","ref":"3f9ac0c9357b2a971582ae79ede243511d47811d","channel":"pre-release"}}