-
Organsysteme
-
Diagnostik
-
Gene
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ABCA1
,
-
ABCB7
,
-
ADCK3
,
-
AFG3L2
,
-
AMACR
,
-
ANO10
,
-
APTX
,
-
ARG1
,
-
ASL
,
-
ASS1
,
-
ATM
,
-
ATP7B
,
-
ATXN1
,
-
ATXN10
,
-
ATXN2
,
-
ATXN3
,
-
ATXN7
,
-
ATXN8OS
,
-
BCKDHA
,
-
BCKDHB
,
-
BEAN1
,
-
C10orf2
,
-
C12orf65
,
-
CACNA1A
,
-
CACNA1C
,
-
CACNA1G
,
-
CACNB4
,
-
CCDC88C
,
-
CLCN2
,
-
COQ2
,
-
COQ4
,
-
COQ6
,
-
COQ9
,
-
CPS1
,
-
CSF1R
,
-
CYP27A1
,
-
DAB1
,
-
DARS2
,
-
DBT
,
-
DNAJC5
,
-
DNMT1
,
-
EEF2
,
-
ELOVL4
,
-
ELOVL5
,
-
ETFA
,
-
ETFB
,
-
ETFDH
,
-
FAT2
,
-
FGF14
,
-
FXN
,
-
GFAP
,
-
GJB1
,
-
GOSR2
,
-
GRM1
,
-
HEXA
,
-
HEXB
,
-
HSD17B4
,
-
ITPR1
,
-
IVD
,
-
KCNA1
,
-
KCNC3
,
-
KCND3
,
-
KCNJ10
,
-
MME
,
-
MRE11A
,
-
NOP56
,
-
NPC1
,
-
NPC2
,
-
NPTX1
,
-
OTC
,
-
PDHA1
,
-
PDSS1
,
-
PDSS2
,
-
PDYN
,
-
PEX6
,
-
PEX7
,
-
PHYH
,
-
PIK3R5
,
-
PLD3
,
-
PLEKHG4
,
-
PMPCA
,
-
PNKP
,
-
PNPLA6
,
-
PNPT1
,
-
POLG
,
-
PPP2R2B
,
-
PRKCG
,
-
PRNP
,
-
PRRT2
,
-
PUM1
,
-
REEP1
,
-
SACS
,
-
SAMD9L
,
-
SCN1A
,
-
SCN2A
,
-
SETX
,
-
SIL1
,
-
SLC1A3
,
-
SLC25A15
,
-
SLC2A1
,
-
SLC52A3
,
-
SLC6A19
,
-
SLC9A1
,
-
SPG7
,
-
SPTBN2
,
-
STUB1
,
-
SYNE1
,
-
TACO1
,
-
TBP
,
-
TGM6
,
-
TMEM240
,
-
TRPC3
,
-
TSEN54
,
-
TTBK2
,
-
TTC19
,
-
TTPA
,
-
VPS13D
ChannelopathieLeukenzephalopathie
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