rs1057519389
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs1057519518
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs1057519519
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs1057519520
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs779003155
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
|
28017373 |
2017 |
rs779003155
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs779003155
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
|
28017370 |
2017 |
rs869312668
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
|
28017370 |
2017 |
rs869312668
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
|
28017373 |
2017 |
rs869312668
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519437
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1057519389
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519520
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs779003155
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs869312668
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519389
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
Stereotypic Movement Disorder
|
A |
0.700 |
CausalMutation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
Poor school performance
|
A |
0.700 |
CausalMutation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
Abnormality of facial musculature
|
A |
0.700 |
CausalMutation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
Hypoplastic feet
|
A |
0.700 |
CausalMutation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
Global developmental delay
|
A |
0.700 |
CausalMutation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
Expressive language delay
|
A |
0.700 |
CausalMutation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
Ataxia
|
A |
0.700 |
CausalMutation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
Triangular face
|
A |
0.700 |
CausalMutation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
Entrez Id: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
Impaired pain sensation
|
A |
0.700 |
CausalMutation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |