Genetic Disorders and the Fetus. Группа авторов

Genetic Disorders and the Fetus - Группа авторов


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FMR1 XL 312 608 450 662 243 214 Fraser syndrome 1 (FRASRS1) FRAS1 AR 2 2 2 2 1 1 Friedreich ataxia 1 (FRDA) FXN AR 2 6 4 7 2 2 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1) c9orf72 AD 1 1 1 1 1 1 Fructose intolerance, hereditary ALDOB AR 2 7 6 7 3 3 Fumarase deficiency (FMRD) FH AR 1 1 0 0 0 0 Galactosemia GALT AR 3 7 5 6 2 2
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Gastric cancer, hereditary diffuse (HDGC) CDH1 AD 1 1 1 2 1 1
Gaucher disease, type I GBA XL 39 52 34 57 24 19
Geroderma osteodysplasticum (GO) GORAB AR 1 2 2 4 1 1
Gitelman syndrome (GTLMNS) SLC12A3 AR 1 1 1 1 0 0
Glaucoma 3, primary congenital, A (GLC3A) CYP1B1 AR 1 1 2 2 1 1
Glut1 deficiency syndrome 1 (GLUT1DS1) SLC2A1 AD 1 2 1 2 0 0
Glutaric acidemia I GCDH AR 1 1 1 2 0 0
Glycine encephalopathy (GCE) GLDC AR 6 7 6 11 6 6
Glycogen storage disease Ia (GSD1A) G6PC AR 1 1 2 2 0 0
Glycogen storage disease II (GSD2) GAA AR 5 7 4 9 1 1
Glycogen storage disease IXa1 (GSD9A1) PHKA2 XL 1 1 0 0 0 0
Glycogen storage disease VII (GSD7) PFKM AR 1 1 1 1 1 1
Gm1‐gangliosidosis, type I GLB1 AR 5 5 5 10 4 4