Genetic Disorders and the Fetus. Группа авторов

1 2 1 1 Epidermolysis bullosa, junctional, Herlitz type LAMA3 AR 4 9 7 13 7 7 Epidermolysis bullosa, junctional, non‐herlitz type LAMB3 AR 5 6 5 9 2 2 Epidermolytic hyperkeratosis (EHK) KRT10 AD 2 3 2 2 2 2 Epileptic encephalopathy, early infantile, 2 (EIEE2) CDKL5 XL 1 1 1 2 1 1 Epileptic encephalopathy, early infantile, 3 (EIEE3) SLC25A22 AR 1 1 0 0 0 0 Epileptic encephalopathy, early infantile, 5 (EIEE5) SPTAN1 AR 1 1 0 0 0 0 Epiphyseal dysplasia, multiple, 1 (EDM1) COMP AD 3 4 2 2 1 1 Exostoses, multiple, type I EXT1 AD 11 21 17 29 12 10 Exostoses, multiple, type II EXT2 AD 3 8 6 10 3 3 Fabry disease GLA XL 12 19 14 22 9 7 Facioscapulohumeral muscular dystrophy 1 (FSHD1) FRG1 AD 25 51 42 71 23 20 Factor VII deficiency F7 AR 1 1 1 1 0 0 Familial adenomatous polyposis 1 (FAP1) APC AD 23 44 36 57 17 15 Familial cold autoinflammatory syndrome 1 (FCAS1) NLPR3 AD 1 1 1 1 1 1 Familial Mediterranean fever (FMF) MEFV AR 10 18 16 22 11 8 Fanconi anemia, complementation group A (FANCA) FANCA AR 2 5 2 3 2 2 Fanconi anemia, complementation group C (FANCC) FANCC AR 2 5 4 8 1 1 Fetal akinesia deformation sequence (FADS) NUP88 AR 1 1 1 2 1 1 Fetal akinesia deformation sequence (FADS) RAPSN AR 1 1 1 2 1 0 Fragile‐X mental retardation syndrome