-
Organsysteme
-
Diagnostik
-
Gene
-
AARS1
,
-
ABCD1
,
-
ADA2
,
-
ADAR
,
-
ARSA
,
-
COL4A1
,
-
COL4A2
,
-
CSF1R
,
-
CTSA
,
-
CYP27A1
,
-
DARS2
,
-
EIF2B1
,
-
EIF2B2
,
-
EIF2B3
,
-
EIF2B4
,
-
EIF2B5
,
-
GALC
,
-
GFAP
,
-
GJA1
,
-
GLA
,
-
HEPACAM
,
-
HTRA1
,
-
IFIH1
,
-
LMNB1
,
-
MLC1
,
-
NOTCH3
,
-
PLP1
,
-
SCP2
,
-
SLC6A8
,
-
SOX10
,
-
TREM2
,
-
TREX1
,
-
TYMP
,
-
TYROBP
GliedergürteldystrophieSpastische Paraplegien (SPG)
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