| PONTOCEREBELLAR HYPOPLASIA, TYPE 9 |
C4014354 |
AMPD2
|
24482476, 23911318, 27159321 |
| Pontocerebellar Hypoplasia Type 1 |
C1843504, 2254 |
CHMP1A
|
|
|
EXOSC9
|
29727687 |
|
VRK1
|
24126608, 19646678, 26633545, 26583493, 21937992 |
|
EXOSC8
|
24989451 |
|
EXOSC3
|
22544365 |
|
RARS2
|
20952379 |
|
TSEN54
|
21468723 |
|
AGTPBP1
|
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 1B |
C3553449 |
VRK1
|
|
|
EXOSC3
|
23564332, 25809939, 23975261, 23284067, 22544365, 29656927, 24524299 |
| PONTOCEREBELLAR HYPOPLASIA, TYPE 10 |
C4014347 |
CLP1
|
24766809, 24766810 |
| PONTOCEREBELLAR HYPOPLASIA, TYPE 1C |
C4015160 |
EXOSC8
|
24989451, 29656927 |
| Pontocerebellar Hypoplasia Type 2 |
C2932714, 2524 |
SEPSECS
|
20920667 |
|
TSEN34
|
18711368 |
|
TSEN2
|
23562994 |
|
TSEN15
|
27392077 |
|
TSEN54
|
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 2E |
C4014488 |
VPS53
|
30100179, 24577744, 28567303, 2920088 |
| Pontocerebellar Hypoplasia Type 6 |
C1969084, 166073 |
RARS2
|
27061686, 27604308, 22086604, 26083569, 20635367, 25356970, 24896178, 26795593 |
| Pontocerebellar Hypoplasia Type 2A |
C1848526 |
TSEN34
|
|
|
TSEN2
|
|
|
TSEN54
|
18711368, 21368912, 27570394, 23177318, 24886362, 23307886, 29410950, 20803644, 20952379 |
|
MKRN2OS
|
|
| Pontocerebellar Hypoplasia Type 2C |
C2676465 |
TSEN34
|
18711368, 20952379 |
| Pontocerebellar Hypoplasia Type 2B |
C2676466 |
TSEN2
|
18711368, 20952379 |
|
MKRN2OS
|
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 2F |
C4310757 |
TSEN15
|
25558065, 27392077 |
| Pontocerebellar hypoplasia type 4 |
166063 |
TSEN54
|
|
| Pontocerebellar hypoplasia type 8 |
324569 |
CHMP1A
|
|
| Pontocerebellar hypoplasia type 9 |
369920 |
AMPD2
|
|
| Pontocerebellar hypoplasia type 7 |
284339 |
TOE1
|
|
| Pontocerebellar hypoplasia type 10 |
411493 |
CLP1
|
|
| Pontocerebellar hypoplasia type 3 |
97249 |
PCLO
|
|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 2D |
C3151140 |
SEPSECS
|
12920088, 20920667, 26888482, 26115735, 28133863 |
| Congenital pontocerebellar hypoplasia |
C0266468 |
AMPD2
|
23911318 |
|
CHMP1A
|
23023333 |
|
VRK1
|
24126608 |
|
CASK
|
|
|
CLP1
|
24766810 |
|
EXOSC3
|
24524299, 23564332 |
|
SEPSECS
|
20920667, 12920088 |
|
VPS53
|
24577744 |
|
RARS2
|
20635367 |
|
TSEN34
|
18711368 |
|
TSEN2
|
20952379 |
|
TOE1
|
28092684 |
|
TSEN54
|
20952379, 21368912 |
| Congenital pontocerebellar hypoplasia type 8 |
C3554209 |
CHMP1A
|
23023333 |
| Pontoneocerebellar hypoplasia |
C1261175 |
TBC1D23
|
28823707 |
| Congenital pontocerebellar hypoplasia type 7 |
C3554226 |
TOE1
|
28092684 |
