Syndromic NS

하단 표의 링크 버튼을 누르면 해당 카테고리의 포스트를 볼 수 있습니다.

CategoryGeneProtein/Syndrome DiseaseInheritanceOMIM #
Syndromic NSDGKEAtypical Hemolytic Uremic SyndromeAR615008
Syndromic NSLCATNorum disease (classical familial lecithin:cholesterol acyltransferase deficiency)AR245900
Syndromic NSPODXLCongenital omphaloceleAR602632
Syndromic NSMAFBMulticentric carpotarsal osteolysisAD166300
Syndromic NSSMARCAL1Schimke immuno-osseous dysplasiaAR242900
Syndromic NSPAX2Papillorenal syndromeAD120330
Syndromic NSINF2Autosomal dominant intermediate Charcot-Marie-Tooth diseaes type EAD614455
Syndromic NSLMX1BNail-patella syndromeAD161200
Syndromic NSMYH9MYH9-related disease (macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss - Epstein syndrome, Fechtner syndrom)AD155100
Syndromic NSMT-TL1MELAS syndromeMitochondrial540000
Syndromic NSNUP107Galloway-Mowat syndrome 7AR618349, 619603
Syndromic NSTP53RKGalloway-Mowat syndrome 4AR617730
Syndromic NSPDSS2CoQ10 deficiencyAR610546
Syndromic NSCOQ8Coenzyme Q10 deficiency (encephalopathy; deafness; Leigh syndrome)AR612016
Syndromic NSCOQ6Coenzyme Q10 deficiency (encephalopathy; deafness; Leigh syndrome)AR614650
Syndromic NSCOQ2Coenzyme Q10 deficiency (encephalopathy; deafness; Leigh syndrome)AR607426
Syndromic NS----
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