1
|
1
|
1
|
2
|
1
|
1
|
|
Joubert syndrome 3 (JBTS3)
|
AHI1
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Joubert syndrome 6 (JBTS6)
|
TMEM67
|
AR
|
2
|
3
|
2
|
2
|
2
|
2
|
|
Krabbe disease
|
GALC
|
AR
|
11
|
12
|
11
|
19
|
7
|
5
|
|
Larsen syndrome (LRS)
|
FLNB
|
AD
|
2
|
2
|
1
|
1
|
1
|
1
|
|
Leber congenital amaurosis 2 (LCA2)
|
RPE65
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Leigh syndrome (LS)
|
NDUFS8
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Leigh syndrome (LS)
|
SURF1
|
AR
|
1
|
1
|
1
|
3
|
0
|
0
|
|
Lesch–Nyhan syndrome (LNS)
|
HPRT1
|
XL
|
1
|
4
|
3
|
3
|
2
|
2
|
|
Leukoencephalopathy with vanishing white matter (VWM)
|
EIF2B2
|
AR
|
1
|
1
|
1
|
2
|
1
|
0
|
|
Li–Fraumeni syndrome 1 (LFS1)
|
TP53
|
AD
|
16
|
22
|
17
|
24
|
13
|
11
|
|
Lipoid congenital adrenal hyperplasia (LCAH)
|
STAR
|
AR
|
1
|
2
|
2
|
3
|
1
|
1
|
|
Lissencephaly, X‐linked, 2 (LISX2)
|
ARX
|
XL
|
1
|
1
|
1
|
2
|
0
|
0
|
|
Loeys–Dietz syndrome 1 (LDS1)
|
TGFBR2
|
AD
|
2
|
5
|
4
|
6
|
2
|
1
|
|
Long QT syndrome 1 (LQT1)
|
KCNQ1
|
AD
|
4
|
5
|
2
|
2
|
2
|
2
|
|
Long QT syndrome 2 (LQT2)
|
KCNH2
|
AD
|
3
|
3
|
2
|
2
|
1
|
1
|
|
Long QT syndrome 8 (LQT8)
|
CACNA1C
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Lymphedema, hereditary, III (LMPH3)
|
PIEZO1
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Lymphoproliferative syndrome, X‐linked, 1 (XLP1)
|
SH2D1A
|
XL
|
1
|
1
|
2
|
3
|
2
|
2
|
|
Lysosomal acid lipase deficiency
|
LIPA
|
AR
|
2
|
2
|
2
|
4
|
2
|
2
|
|
Machado–Joseph disease (MJD)
|
ATXN3
|
