Genetic Disorders and the Fetus. Группа авторов

MYL3 AD 1 2 0 0 0 0 Carnitine deficiency, systemic primary (CDSP) SLC22A5 AR 1 2 1 2 1 1 Carnitine palmitoyltransferase II deficiency, infantile CPT2 AR 4 7 4 4 2 2 Cerebral arteriopathy, autosomal dominant NOTCH3 AD 3 7 6 6 6 4 Cerebral creatine deficiency syndrome 1 (CCDS1) SLC6A8 XL 1 1 1 2 1 1 Ceroid lipofuscinosis, neuronal 2, late infantile (CLN2) TPP1 AR 2 3 2 2 2 1 Ceroid lipofuscinosis, neuronal, 10 (CLN10) CTSD AR 1 1 2 3 1 1 Ceroid lipofuscinosis, neuronal, 5 (CLN5) CLN5 AR 1 1 2 3 0 0 Ceroid lipofuscinosis, neuronal, 6 (CLN6) CLN6 AR 2 2 1 2 0 0 Charcot–Marie–Tooth disease, axonal, type 2A2 (CMT2A2) MFN2 AD 2 9 6 7 2 2 Charcot–Marie–Tooth disease, axonal, type 2B (CMT2B) RAB7A AD 1 1 2 4 2 1 Charcot–Marie–Tooth disease, axonal, type 2E (CMT2E) NEFL AD 1 4 4 7 1 1 Charcot–Marie–Tooth disease, axonal, type 2F (CMT2F) HSPB1 AD 1 1 1 1 0 0 Charcot–Marie–Tooth disease, demyelinating, type 1A (CMT1A) PMP22 AD 28 56 38 51 25 21 Charcot–Marie–Tooth disease, demyelinating, type 1B (CMT1B) MPZ AD 2 5 2 5 0 0 Charcot–Marie–Tooth disease, X‐linked, 1 (CMTX1) GJB1 XL 6 9 9 14 5 5 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) ABCB11 AR 1 2 2 4 1 1 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) ABCB4 AR 1 1 1 2 1 1 Chondrodysplasia punctata 1, X‐linked recessive (CDPX1) ARSE XL 1 2 2 3 0 0 Choroideremia (CHM) CHM