rs1057519389
|
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057519389
|
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057519389
|
|
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057519389
|
|
Ataxia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
|
Ataxia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
|
Expressive language delay
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
|
Cerebellar Ataxia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
|
Abnormal palmar creases
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.
|
29062322 |
2017 |
rs1057519389
|
|
Impaired pain sensation
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
|
Aplasia/Hypoplasia of the cerebellar vermis
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.
|
29062322 |
2017 |
rs1057519389
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
|
Torticollis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
|
Deglutition Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
|
Impaired pain sensation
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.
|
28487885 |
2017 |
rs1057519389
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
|
28017373 |
2017 |
rs1057519389
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
|
29162653 |
2017 |
rs1057519389
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
|
28017370 |
2017 |
rs1057519389
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
|
28017370 |
2017 |
rs1057519389
|
|
Poor school performance
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
|
28017373 |
2017 |
rs1057519389
|
|
Deglutition Disorders
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
|
Apraxias
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |