[{"command":"add_css","data":[{"rel":"stylesheet","media":"all","href":"\/core\/modules\/views\/css\/views.module.css?tdhib2"}]},{"command":"insert","method":"replaceWith","selector":"#case-definition-glossary-wrapper","data":"\u003Cdiv id=\u0022case-definition-glossary-wrapper\u0022\u003E\u003Cdiv class=\u0022accordion-multilevel case-definition-a-z js-view-dom-id-c70d0a08340f51d3d19a2a10c1fbee803ff6a2dd7582d5a6c84428c0ed9f9246\u0022\u003E\n  \n  \n  \n\n  \n  \n  \n\n  \u003Cdiv class=\u0022views-view-grid horizontal cols-400000 clearfix\u0022\u003E\n              \u003Cdiv class=\u0022case-definitions\u0022\u003E\n                  \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3  js-title-level-3\u0022\u003E\nMaple syrup urine disease (MSUD)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n  \n  \n      \u003Cthead\u003E\n      \u003Ctr\u003E\n                  \u003Cth class=\u0022classification\u0022\u003EClassification\u003C\/th\u003E\n                  \u003Cth class=\u0022plasma-amino-acids\u0022\u003EPlasma amino acids\u003C\/th\u003E\n                  \u003Cth class=\u0022urine-organic-acids\u0022\u003EUrine Organic acids\u003C\/th\u003E\n                  \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n                  \u003Cth class=\u0022enzyme-studies\u0022\u003EEnzyme Studies\u003C\/th\u003E\n              \u003C\/tr\u003E\n    \u003C\/thead\u003E\n  \n      \u003Ctbody\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-amino-acids\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organic-acids\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 known disease causing mutations in the same gene\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-amino-acids\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organic-acids\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003EAny mutation results Untested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-studies\u0022\u003EEnzyme analysis consistent with MSUD\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-amino-acids\u0022\u003EElevated Alloisoleucine and\nLeu, and\nVal, and\n Ileu\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organic-acids\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003EAny mutation results Untested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-amino-acids\u0022\u003EElevated Alloisoleucine\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organic-acids\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 mutations of uncertain significance in the same gene - predicted to be pathogenic\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-amino-acids\u0022\u003EElevated Alloisoleucine\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organic-acids\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 mutations of uncertain significance\nOnly one mutation identified \nNo mutations found\nUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-amino-acids\u0022\u003EElevated Leu and\nIle and\nVal and\nLeu\u0026gt;Val\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organic-acids\u0022\u003E2-ketoisocaproic acid and\n2-OH Isovaleric and\n2-ketomethyl valeric acid\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 mutations of uncertain significance\nOnly one mutation identified \nNo mutations found\nUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-amino-acids\u0022\u003EElevated Leu and\nIle and\nVal and\nLeu\u0026gt;Val\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organic-acids\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E3 mutations of uncertain significance\nOnly one mutation identified \nNo mutations found\nUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n          \u003C\/tbody\u003E\n    \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n                  \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3  js-title-level-3\u0022\u003E\nMedium-chain acyl-CoA dehydrogenase deficiency (MCAD)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n  \n  \n      \u003Cthead\u003E\n      \u003Ctr\u003E\n                  \u003Cth class=\u0022classification\u0022\u003EClassification\u003C\/th\u003E\n                  \u003Cth class=\u0022urine-organics-or-aclyglycines\u0022\u003EUrine Organics or Aclyglycines\u003C\/th\u003E\n                  \u003Cth class=\u0022plasma-acylcarnitines\u0022\u003EPlasma Acylcarnitines\u003C\/th\u003E\n                  \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation Analysis\u003C\/th\u003E\n                  \u003Cth class=\u0022functional-studies\u0022\u003EFunctional Studies\u003C\/th\u003E\n              \u003C\/tr\u003E\n    \u003C\/thead\u003E\n  \n      \u003Ctbody\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics-or-aclyglycines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 known disease causing mutations in the same gene\u003C\/td\u003E\n                      \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics-or-aclyglycines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022functional-studies\u0022\u003EFunctional fibroblast or Enzyme analysis consistent with MCAD\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics-or-aclyglycines\u0022\u003EElevated hexanoylglycine\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated:\n-C8 and\n-C8\u0026gt;C10 and\n-C8 \u0026gt;C6 and\n-C6 and\n-C10\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics-or-aclyglycines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated:\n-C8 and\n-C8\u0026gt;C10 and\n-C8 \u0026gt;C6 and\n-C6 and\n-C10\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 mutations of uncertain significance in the same gene - predicted to be pathogenic\u003C\/td\u003E\n                      \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics-or-aclyglycines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C8 on repeat testing\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E1 known disease causing mutation and 1 mutation of uncertain significance in the same gene\u003C\/td\u003E\n                      \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics-or-aclyglycines\u0022\u003EElevated hexanoylglycine\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C8 on repeat testing\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E1 known disease causing mutation\u003C\/td\u003E\n                      \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics-or-aclyglycines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C8 on repeat testing\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 mutations of uncertain significance in the same gene\u003C\/td\u003E\n                      \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics-or-aclyglycines\u0022\u003EElevated hexanoylglycine\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C8 on repeat testing\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003ENo mutation found\u003C\/td\u003E\n                      \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics-or-aclyglycines\u0022\u003EElevated hexanoylglycine\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 mutations of uncertain significance in the same gene\u003C\/td\u003E\n                      \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics-or-aclyglycines\u0022\u003EElevated Hexanoylglycine\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003ENo mutation found\u003C\/td\u003E\n                      \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics-or-aclyglycines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C8 on repeat testing\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003ENo mutation found\u003C\/td\u003E\n                      \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible or Carrier\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics-or-aclyglycines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C8\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E1 known disease causing mutation\u003C\/td\u003E\n                      \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible or Carrier\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organics-or-aclyglycines\u0022\u003EElevated Hexanoylglycine\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003ENormal\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E1 known disease causing mutation\u003C\/td\u003E\n                      \u003Ctd class=\u0022functional-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n          \u003C\/tbody\u003E\n    \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n                  \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n                  \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3  js-title-level-3\u0022\u003E\n3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n  \n  \n      \u003Cthead\u003E\n      \u003Ctr\u003E\n                  \u003Cth class=\u0022classification\u0022\u003EClassification\u003C\/th\u003E\n                  \u003Cth class=\u0022urine-organic-acids\u0022\u003EUrine organic acids\u003C\/th\u003E\n                  \u003Cth class=\u0022plasma-acylcarnitines\u0022\u003EPlasma Acylcarnitines\u003C\/th\u003E\n                  \u003Cth class=\u0022maternal-studies\u0022\u003EMaternal Studies\u003C\/th\u003E\n                  \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n                  \u003Cth class=\u0022enzyme-analysis\u0022\u003EEnzyme analysis\u003C\/th\u003E\n              \u003C\/tr\u003E\n    \u003C\/thead\u003E\n  \n      \u003Ctbody\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organic-acids\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 known disease causing mutations in the same gene\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organic-acids\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 mutations of uncertain significance in the same gene OR  \nOnly one mutation identified OR\nNo mutations found OR\nUntested OR \nUnknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003Eenzyme activity consistent with disease\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organic-acids\u0022\u003EElevated\n3-OH Isovaleric with or without elevated \n3-methylcrotonyl glycine\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003Eelevated \nC5 -OH\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EMaternal deficiency tested and ruled out\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 mutations of uncertain significance in the same gene - predicted to be pathogenic\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organic-acids\u0022\u003EElevated\n3-OH Isovaleric with or without elevated \n3-methylcrotonyl glycine\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003Eelevated \nC5 -OH\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EMaternal deficiency tested and ruled out\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 mutations of uncertain significance in the same gene  (one mutation may be of uncertain significance predicted to be pathogenic)\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organic-acids\u0022\u003EElevated\n- 3-OH Isovaleric and\n- 3-methylcrotonyl glycine\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003Eelevated \nC5 -OH\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EMaternal deficiency tested and ruled out\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003EOnly one mutation identified OR\nNo mutations found OR\nUntested OR \nUnknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organic-acids\u0022\u003EElevated\n- 3-OH Isovaleric and\n- 3-methylcrotonyl glycine\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EMaternal deficiency tested and ruled out\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003EOnly one mutation identified OR\nNo mutations found OR\nUntested OR \nUnknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-organic-acids\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003Eelevated \nC5 -OH\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EMaternal deficiency tested and ruled out\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003EOnly one mutation identified OR\nNo mutations found OR\nUntested OR \nUnknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n          \u003C\/tbody\u003E\n    \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n                  \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3  js-title-level-3\u0022\u003E\nMethylmalonic acidemia (MMA)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n  \n  \n      \u003Cthead\u003E\n      \u003Ctr\u003E\n                  \u003Cth class=\u0022classification\u0022\u003EClassification\u003C\/th\u003E\n                  \u003Cth class=\u0022urine-or-serum-organic-acids\u0022\u003EUrine or serum organic acids\u003C\/th\u003E\n                  \u003Cth class=\u0022plasma-acylcarnitines\u0022\u003EPlasma Acylcarnitines\u003C\/th\u003E\n                  \u003Cth class=\u0022maternal-studies\u0022\u003EMaternal Studies\u003C\/th\u003E\n                  \u003Cth class=\u0022infant-chemistries--studies\u0022\u003EInfant chemistries\/ studies\u003C\/th\u003E\n                  \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n                  \u003Cth class=\u0022enzyme-analysis\u0022\u003EEnzyme analysis\u003C\/th\u003E\n              \u003C\/tr\u003E\n    \u003C\/thead\u003E\n  \n      \u003Ctbody\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-or-serum-organic-acids\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 known disease causing variants in the same gene (Allele 1 - variant known to be disease causing and Allele 2 - variant known to be disease causing)\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-or-serum-organic-acids\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003Ecomplementation studies consistent with corresponding disease\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-or-serum-organic-acids\u0022\u003EElevated MMA for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C3\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EAbsence of B12 deficiency\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EAbsence of B12 deficiency and -Normal homocysteine\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 variants of uncertain significance in the same gene - predicted to be pathogenic [Allele 1 - variant of unknown significance (predicted to be pathogenic) and Allele 2 - variant of unknown significance (predicted to be pathogenic)]\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-or-serum-organic-acids\u0022\u003EElevated MMA for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C4\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EAbsence of B12 deficiency\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EAbsence of B12 deficiency and -Normal homocysteine\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 - variant of unknown significance)\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-or-serum-organic-acids\u0022\u003EElevated MMA for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C5\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EAbsence of B12 deficiency\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EAbsence of B12 deficiency and -Normal homocysteine\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-or-serum-organic-acids\u0022\u003EElevated MMA for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C6\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EAbsence of B12 deficiency\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EAbsence of B12 deficiency and -Normal homocysteine\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E1 known disease causing variant (Allele 1 - variant known to be disease causing)\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-or-serum-organic-acids\u0022\u003EElevated MMA for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C7\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EAbsence of B12 deficiency\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EAbsence of B12 deficiency and -Normal homocysteine\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003ENone found\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-or-serum-organic-acids\u0022\u003EElevated MMA for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C8\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EAbsence of B12 deficiency and -Normal homocysteine\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003EN\/A\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n          \u003C\/tbody\u003E\n    \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n                  \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3  js-title-level-3\u0022\u003E\nMethylmalonic acidemia with homocystinuria (Cbl C,D)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n  \n  \n      \u003Cthead\u003E\n      \u003Ctr\u003E\n                  \u003Cth class=\u0022classification\u0022\u003EClassification\u003C\/th\u003E\n                  \u003Cth class=\u0022urine-serum-organic-acids\u0022\u003EUrine serum organic acids\u003C\/th\u003E\n                  \u003Cth class=\u0022plasma-acylcarnitines\u0022\u003EPlasma Acylcarnitines\u003C\/th\u003E\n                  \u003Cth class=\u0022maternal-studies\u0022\u003EMaternal Studies\u003C\/th\u003E\n                  \u003Cth class=\u0022infant-chemistries--studies\u0022\u003EInfant chemistries\/ studies\u003C\/th\u003E\n                  \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n                  \u003Cth class=\u0022enzyme-analysis\u0022\u003EEnzyme analysis\u003C\/th\u003E\n              \u003C\/tr\u003E\n    \u003C\/thead\u003E\n  \n      \u003Ctbody\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-serum-organic-acids\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 known disease causing variants in the same gene (Allele 1 - variant known to be disease causing and Allele 2 - variant known to be disease causing)\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-serum-organic-acids\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EComplementation studies consistent with corresponding disease\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-serum-organic-acids\u0022\u003EElevated MMA for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C3\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EAbsence of B12 deficiency\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EAbsence of B12 deficiency and -Elevated homocysteine\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 variants of uncertain significance in the same gene - predicted to be pathogenic [ Allele 1 - variant of unknown significance (predicted to be pathogenic) and Allele 2 - variant of unknown significance (predicted to be pathogenic)]\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-serum-organic-acids\u0022\u003EElevated MMA for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C3\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EAbsence of B12 deficiency\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EAbsence of B12 deficiency and -Elevated homocysteine\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 - variant of unknown significance)\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-serum-organic-acids\u0022\u003EElevated MMA for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C3\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EAbsence of B12 deficiency\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EAbsence of B12 deficiency and -Elevated homocysteine\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-serum-organic-acids\u0022\u003EElevated MMA for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C3\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EAbsence of B12 deficiency\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EAbsence of B12 deficiency and -Elevated homocysteine\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003E1 known disease causing variant (Allele 1 - variant known to be disease causing)\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-serum-organic-acids\u0022\u003EElevated MMA for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C3\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EAbsence of B12 deficiency\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EAbsence of B12 deficiency and -Elevated homocysteine\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003ENone found\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-serum-organic-acids\u0022\u003EElevated MMA for age\u003C\/td\u003E\n                      \u003Ctd class=\u0022plasma-acylcarnitines\u0022\u003EElevated C3\u003C\/td\u003E\n                      \u003Ctd class=\u0022maternal-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022infant-chemistries--studies\u0022\u003EAbsence of B12 deficiency and -Elevated homocysteine\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-analysis\u0022\u003EN\/A\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n          \u003C\/tbody\u003E\n    \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n                  \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3  js-title-level-3\u0022\u003E\nMucopolysaccharidosis I (MPS I)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n  \n  \n      \u003Cthead\u003E\n      \u003Ctr\u003E\n                  \u003Cth class=\u0022classification\u0022\u003EClassification\u003C\/th\u003E\n                  \u003Cth class=\u0022disorder\u0022\u003EDisorder\u003C\/th\u003E\n                  \u003Cth class=\u0022mutation-status\u0022\u003EMutation Status\u003C\/th\u003E\n                  \u003Cth class=\u0022enzyme-activity\u0022\u003EEnzyme Activity\u003C\/th\u003E\n                  \u003Cth class=\u0022urine-gags\u0022\u003EUrine GAGS\u003C\/th\u003E\n                  \u003Cth class=\u0022clinical-symptoms--lab-findings\u0022\u003EClinical Symptoms\/ Lab Findings\u003C\/th\u003E\n              \u003C\/tr\u003E\n    \u003C\/thead\u003E\n  \n      \u003Ctbody\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022disorder\u0022\u003EMPS I - severe\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic* and associated with severe disease and Allele 2 - pathogenic and associated with severe disease #\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-activity\u0022\u003EWithin lab known affected range\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-gags\u0022\u003EElevated\u003C\/td\u003E\n                      \u003Ctd class=\u0022clinical-symptoms--lab-findings\u0022\u003E\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022disorder\u0022\u003EMPS I - severity not determined\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic* or likely pathogenic and Allele 2 - variant with uncertain significance\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-activity\u0022\u003EWithin lab known affected range\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-gags\u0022\u003EElevated\u003C\/td\u003E\n                      \u003Ctd class=\u0022clinical-symptoms--lab-findings\u0022\u003E\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022disorder\u0022\u003EMPS I - severity not determined\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-status\u0022\u003EUnknown\/Not Done\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-activity\u0022\u003EWithin lab known affected range\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-gags\u0022\u003EElevated\u003C\/td\u003E\n                      \u003Ctd class=\u0022clinical-symptoms--lab-findings\u0022\u003E\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022disorder\u0022\u003EMPS I - severe\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic* and associated with severe disease and Allele 2 - pathogenic* and associated with severe disease #\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-activity\u0022\u003EWithin lab known affected range\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-gags\u0022\u003EUnknown\/Not Done\u003C\/td\u003E\n                      \u003Ctd class=\u0022clinical-symptoms--lab-findings\u0022\u003E\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022disorder\u0022\u003EMPS I - severe\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic* and associated with severe disease and Allele 2 - pathogenic* and associated with severe disease #\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-activity\u0022\u003EUnknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-gags\u0022\u003EUnknown\/Not Done\u003C\/td\u003E\n                      \u003Ctd class=\u0022clinical-symptoms--lab-findings\u0022\u003E\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022disorder\u0022\u003EMPS I Attenuated\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic* and associated with severe disease and Allele 2 - variant known to be associated with ATTENUATED Disease #\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-activity\u0022\u003EWithin lab known affected range\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-gags\u0022\u003EElevated\u003C\/td\u003E\n                      \u003Ctd class=\u0022clinical-symptoms--lab-findings\u0022\u003ESymptoms present and documented by specialists. PH program continued to collect data through the development of symptoms**\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EDefinite\u003C\/td\u003E\n                      \u003Ctd class=\u0022disorder\u0022\u003EMPS I Attenuated\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - variant known to be associated with ATTENUATED Disease and Allele 2 - variant known to be associated with ATTENUATED Disease #\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-activity\u0022\u003EWithin lab known affected range\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-gags\u0022\u003EElevated\u003C\/td\u003E\n                      \u003Ctd class=\u0022clinical-symptoms--lab-findings\u0022\u003E\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EProbable\u003C\/td\u003E\n                      \u003Ctd class=\u0022disorder\u0022\u003EMPS I Attenuated\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic* and associated with severe disease and Allele 2 - variant known to be associated with ATTENUATED Disease #\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-activity\u0022\u003EUnknown\/Not Done\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-gags\u0022\u003EUnknown\/Not Done\u003C\/td\u003E\n                      \u003Ctd class=\u0022clinical-symptoms--lab-findings\u0022\u003ESymptoms present and documented by specialists. PH program continued to collect data through the development of symptoms**\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022disorder\u0022\u003EMPS I Attenuated\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic* and associated with severe disease and Allele 2 - variant known to be associated with ATTENUATED Disease #\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-activity\u0022\u003EWithin lab known affected range\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-gags\u0022\u003EUnknown\/Not Done\u003C\/td\u003E\n                      \u003Ctd class=\u0022clinical-symptoms--lab-findings\u0022\u003EUnknown\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022disorder\u0022\u003EMPS I Attenuated\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic* and associated with severe disease and Allele 2 - variant known to be associated with ATTENUATED Disease #\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-activity\u0022\u003EUnknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-gags\u0022\u003EUnknown\/Not Done\u003C\/td\u003E\n                      \u003Ctd class=\u0022clinical-symptoms--lab-findings\u0022\u003E\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022disorder\u0022\u003EMPS I - severity not determined\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic* and associated with severe disease and Allele 2 - variant of unknown significance\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-activity\u0022\u003EUnknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-gags\u0022\u003EUnknown\/Not Done\u003C\/td\u003E\n                      \u003Ctd class=\u0022clinical-symptoms--lab-findings\u0022\u003ESymptoms present and documented by specialists. PH program continued to collect data through the development of symptoms**\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003EPossible\u003C\/td\u003E\n                      \u003Ctd class=\u0022disorder\u0022\u003EMPS I Attenuated\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-status\u0022\u003EAllele 1 - pathogenic* and associated with severe disease and Allele 2 - variant of unknown significance\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-activity\u0022\u003EUnknown\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-gags\u0022\u003EUnknown\/Not Done\u003C\/td\u003E\n                      \u003Ctd class=\u0022clinical-symptoms--lab-findings\u0022\u003ENo symptoms by the time the PH Program closes follow-up (either due to child being lost to follow-up OR program policy on follow-up time\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003E*Pathogenic: Reported in cases known to have severe cases previously.\u003C\/td\u003E\n                      \u003Ctd class=\u0022disorder\u0022\u003E\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-status\u0022\u003E\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-activity\u0022\u003E\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-gags\u0022\u003E\u003C\/td\u003E\n                      \u003Ctd class=\u0022clinical-symptoms--lab-findings\u0022\u003E\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003E# All reports of two variants determined to be disease causing are assumed to bin in trans, and appropriate testing was completed as necessary\u003C\/td\u003E\n                      \u003Ctd class=\u0022disorder\u0022\u003E\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-status\u0022\u003E\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-activity\u0022\u003E\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-gags\u0022\u003E\u003C\/td\u003E\n                      \u003Ctd class=\u0022clinical-symptoms--lab-findings\u0022\u003E\u003C\/td\u003E\n                  \u003C\/tr\u003E\n              \u003Ctr\u003E\n                      \u003Ctd class=\u0022classification\u0022\u003E**  Clinical symptoms consistent with MPS I include: Hepatosplenomegaly, Coarse facial features, Hydrocephalus, Skeletal deformities (dysostosis multiplex), Corneal clouding, Large tongue, Prominent forehead, Joint stiffness, Short stature, frequent ear infections and hearing loss, hernia\u003C\/td\u003E\n                      \u003Ctd class=\u0022disorder\u0022\u003E\u003C\/td\u003E\n                      \u003Ctd class=\u0022mutation-status\u0022\u003E\u003C\/td\u003E\n                      \u003Ctd class=\u0022enzyme-activity\u0022\u003E\u003C\/td\u003E\n                      \u003Ctd class=\u0022urine-gags\u0022\u003E\u003C\/td\u003E\n                      \u003Ctd class=\u0022clinical-symptoms--lab-findings\u0022\u003E\u003C\/td\u003E\n                  \u003C\/tr\u003E\n          \u003C\/tbody\u003E\n    \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n                  \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3  js-title-level-3\u0022\u003E\nMucopolysaccharidosis II (MPS II)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n  \n  \n  \n      \u003Ctbody\u003E\n              \u003Ctr\u003E\n                  \u003C\/tr\u003E\n          \u003C\/tbody\u003E\n    \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n              \u003C\/div\u003E\n        \u003C\/div\u003E\n\n    \n  \n    \n  \n\u003C\/div\u003E\n\u003C\/div\u003E","settings":null}]