Entrez Id: |
80208 |
Gene Symbol: |
SPG11 |
SPG11
|
Hypoplasia of corpus callosum
|
0.200 |
CausalMutation |
CLINVAR |
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
|
19194956 |
2009 |
Entrez Id: |
2290 |
Gene Symbol: |
FOXG1 |
FOXG1
|
Hypoplasia of corpus callosum
|
0.120 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
83604 |
Gene Symbol: |
TMEM47 |
TMEM47
|
Hypoplasia of corpus callosum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
5859 |
Gene Symbol: |
QARS1 |
QARS1
|
Hypoplasia of corpus callosum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
5160 |
Gene Symbol: |
PDHA1 |
PDHA1
|
Hypoplasia of corpus callosum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
26750 |
Gene Symbol: |
RPS6KC1 |
RPS6KC1
|
Hypoplasia of corpus callosum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
5727 |
Gene Symbol: |
PTCH1 |
PTCH1
|
Hypoplasia of corpus callosum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
1654 |
Gene Symbol: |
DDX3X |
DDX3X
|
Hypoplasia of corpus callosum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
11152 |
Gene Symbol: |
WDR45 |
WDR45
|
Hypoplasia of corpus callosum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
4297 |
Gene Symbol: |
KMT2A |
KMT2A
|
Hypoplasia of corpus callosum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
NPHP3-ACAD11
|
Hypoplasia of corpus callosum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
81857 |
Gene Symbol: |
MED25 |
MED25
|
Hypoplasia of corpus callosum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
NPHP3-ACAD11
|
Hypoplasia of corpus callosum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
93627 |
Gene Symbol: |
TBCK |
TBCK
|
Hypoplasia of corpus callosum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
2917 |
Gene Symbol: |
GRM7 |
GRM7
|
Hypoplasia of corpus callosum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
6448 |
Gene Symbol: |
SGSH |
SGSH
|
Hypoplasia of corpus callosum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
79876 |
Gene Symbol: |
UBA5 |
UBA5
|
Hypoplasia of corpus callosum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
91949 |
Gene Symbol: |
COG7 |
COG7
|
Hypoplasia of corpus callosum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
81857 |
Gene Symbol: |
MED25 |
MED25
|
Hypoplasia of corpus callosum
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
285175 |
Gene Symbol: |
UNC80 |
UNC80
|
Hypoplasia of corpus callosum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
25980 |
Gene Symbol: |
AAR2 |
AAR2
|
Hypoplasia of corpus callosum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
57492 |
Gene Symbol: |
ARID1B |
ARID1B
|
Hypoplasia of corpus callosum
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
|
22426309 |
2012 |
Entrez Id: |
51412 |
Gene Symbol: |
ACTL6B |
ACTL6B
|
Hypoplasia of corpus callosum
|
0.100 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
Entrez Id: |
64324 |
Gene Symbol: |
NSD1 |
NSD1
|
Hypoplasia of corpus callosum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
9179 |
Gene Symbol: |
AP4M1 |
AP4M1
|
Hypoplasia of corpus callosum
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|