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Genetic Disorders and the Fetus


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1 1 1 1 HLA + Diamond–Blackfan anemia 9 (DBA9) RPS10 AD 1 1 2 2 1 1 HLA + ectodermal dysplasia, hypohidrotic, with immune deficiency IKBKG XL 2 9 6 8 2 2 HLA + Fanconi anemia, complementation group A (FANCA) FANCA AR 18 52 29 43 14 10 HLA + Fanconi anemia, complementation group C (FANCC) FANCC AR 2 5 5 8 1 1 HLA + Fanconi anemia, complementation group D2 (FANCD2) FANCD2 AR 1 3 2 3 1 1 HLA + Fanconi anemia, complementation group F (FANCF) FANCF AR 2 5 2 3 0 0 HLA + Fanconi anemia, complementation group G (FANCG) FANCG AR 2 2 2 3 2 2 HLA + Fanconi anemia, complementation group I (FANCI) FANCI AR 1 2 2 3 0 0 HLA + Fanconi anemia, complementation group J (FANCJ) BRIP1 AR 1 1 1 1 1 1 HLA + Fanconi anemia, complementation group JI (FANCJ) BRIP1 AR 1 3 1 3 0 0 HLA + Glanzmann thrombasthenia (GT, +DMD) ITGA2B DMD 1 2 2 4 1 0 HLA + granulomatous disease, chronic, autosomal recessive, cytochrome b‐positive, type I (CDG1) NCF1 AR 1 3 2 2 1 1 HLA + granulomatous disease, chronic, X‐linked (CDGX) CYBB XL 6 16 13 17 7 6 HLA + hemoglobin‐beta locus (HBB) HBB AR 92 188 119 177 41 31 HLA + hyper‐IgE recurrent infection syndrome, autosomal recessive DOCK8 AR 1 1 0 0 0 0 HLA + Krabbe disease GALC AR 1 1 1 2 1 1 HLA + myotonic dystrophy 1 (DM1) DMPK AD 1 2 1 2 1 1 HLA + neutropenia, severe congenital, 1, autosomal dominant (SCN1) ELANE AD 2 3 2 5 2 1 HLA + polycystic kidney disease 1 (PKD1) PKD1 AD 1 1 1