Pontoneocerebellar hypoplasia

Disease Term Disease ID Gene Symbol Classification References Source
Congenital pontocerebellar hypoplasia C0266468 AMPD2 Causal Pathogenic evidence from ClinVar 23911318 ClinVar
CHMP1A Causal Pathogenic evidence from ClinVar 23023333 ClinVar
CLP1 Causal Pathogenic evidence from ClinVar 24766810 ClinVar
EXOSC3 Causal Pathogenic evidence from ClinVar 23564332, 24524299 ClinVar
RARS2 Causal Pathogenic evidence from ClinVar 20635367 ClinVar
SEPSECS Causal Pathogenic evidence from ClinVar 12920088, 20920667 ClinVar
TOE1 Causal Pathogenic evidence from ClinVar 28092684 ClinVar
TSEN2 Causal Pathogenic evidence from ClinVar 20952379 ClinVar
TSEN34 Causal Pathogenic evidence from ClinVar 18711368 ClinVar
TSEN54 Causal Pathogenic evidence from ClinVar 20952379, 21368912 ClinVar
Pontocerebellar hypoplasia type 9 369920 AMPD2 Causal Pathogenic evidence from ClinVar - ClinVar
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 C4014354 AMPD2 Causal Pathogenic evidence from ClinVar 23911318, 24482476, 27159321 ClinVar
Congenital pontocerebellar hypoplasia type 8 C3554209 CHMP1A Causal Pathogenic evidence from ClinVar 23023333 ClinVar
Pontocerebellar Hypoplasia Type 1 C1843504 CHMP1A Causal Pathogenic evidence from ClinVar - ClinVar
EXOSC3 Causal Pathogenic evidence from ClinVar 22544365 ClinVar
EXOSC8 Causal Pathogenic evidence from ClinVar 24989451 ClinVar
EXOSC9 Causal Pathogenic evidence from ClinVar 29727687 ClinVar
RARS2 Causal Pathogenic evidence from ClinVar 20952379 ClinVar
TSEN54 Causal Pathogenic evidence from ClinVar 21468723 ClinVar
Pontocerebellar hypoplasia type 8 324569 CHMP1A Causal Pathogenic evidence from ClinVar - ClinVar
Pontocerebellar hypoplasia type 10 411493 CLP1 Causal Pathogenic evidence from ClinVar - ClinVar
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 C4014347 CLP1 Causal Pathogenic evidence from ClinVar 24766809, 24766810 ClinVar
Pontocerebellar hypoplasia type 1 2254 EXOSC3 Causal Pathogenic evidence from ClinVar - ClinVar
EXOSC8 Causal Pathogenic evidence from ClinVar - ClinVar
EXOSC9 Causal Pathogenic evidence from ClinVar - ClinVar
RARS2 Causal Pathogenic evidence from ClinVar - ClinVar
TSEN54 Causal Pathogenic evidence from ClinVar - ClinVar
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B C3553449 EXOSC3 Causal Pathogenic evidence from ClinVar 22544365, 23284067, 23564332, 23975261, 24524299, 25809939, 29656927 ClinVar
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C C4015160 EXOSC8 Causal Pathogenic evidence from ClinVar 24989451, 29656927 ClinVar
Pontocerebellar hypoplasia type 3 97249 PCLO Causal Pathogenic evidence from ClinVar - ClinVar
Pontocerebellar hypoplasia type 6 166073 RARS2 Causal Pathogenic evidence from ClinVar - ClinVar
Pontocerebellar Hypoplasia Type 6 C1969084 RARS2 Causal Pathogenic evidence from ClinVar 20635367, 22086604, 24896178, 25356970, 26083569, 26795593, 27061686, 27604308 ClinVar
Pontocerebellar hypoplasia type 2 2524 SEPSECS Causal Pathogenic evidence from ClinVar - ClinVar
TSEN15 Causal Pathogenic evidence from ClinVar - ClinVar
TSEN2 Causal Pathogenic evidence from ClinVar - ClinVar
TSEN34 Causal Pathogenic evidence from ClinVar - ClinVar
TSEN54 Causal Pathogenic evidence from ClinVar - ClinVar
Pontocerebellar Hypoplasia Type 2 C2932714 SEPSECS Causal Pathogenic evidence from ClinVar 20920667 ClinVar
TSEN15 Causal Pathogenic evidence from ClinVar 27392077 ClinVar
TSEN2 Causal Pathogenic evidence from ClinVar 23562994 ClinVar
TSEN34 Causal Pathogenic evidence from ClinVar 18711368 ClinVar
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D C3151140 SEPSECS Causal Pathogenic evidence from ClinVar 12920088, 20920667, 26115735, 26888482, 28133863 ClinVar
Pontoneocerebellar hypoplasia C1261175 TBC1D23 Causal Pathogenic evidence from ClinVar 28823707 ClinVar
Congenital pontocerebellar hypoplasia type 7 C3554226 TOE1 Causal Pathogenic evidence from ClinVar 28092684 ClinVar
Pontocerebellar hypoplasia type 7 284339 TOE1 Causal Pathogenic evidence from ClinVar - ClinVar
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F C4310757 TSEN15 Causal Pathogenic evidence from ClinVar 25558065, 27392077 ClinVar
Pontocerebellar Hypoplasia Type 2A C1848526 TSEN2 Causal Pathogenic evidence from ClinVar - ClinVar
TSEN34 Causal Pathogenic evidence from ClinVar - ClinVar
Pontocerebellar Hypoplasia Type 2B C2676466 TSEN2 Causal Pathogenic evidence from ClinVar 18711368, 20952379 ClinVar
Pontocerebellar Hypoplasia Type 2C C2676465 TSEN34 Causal Pathogenic evidence from ClinVar 18711368, 20952379 ClinVar