rs1057519389
×
Entrez Id:
253738
Gene Symbol:
EBF3
EBF3
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
×
Entrez Id:
253738
Gene Symbol:
EBF3
EBF3
Muscle hypotonia
T
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
T
0.700
GeneticVariation
CLINVAR
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
28017370
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
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
×
Entrez Id:
253738
Gene Symbol:
EBF3
EBF3
Muscle hypotonia
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
×
Entrez Id:
253738
Gene Symbol:
EBF3
EBF3
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
28017373
2017
rs1057519389
×
Entrez Id:
253738
Gene Symbol:
EBF3
EBF3
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
28017372
2017
rs1057519389
×
Entrez Id:
253738
Gene Symbol:
EBF3
EBF3
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Mutations in ARX Result in Several Defects Involving GABAergic Neurons.
20300201
2010
rs1057519389
×
Entrez Id:
253738
Gene Symbol:
EBF3
EBF3
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity.
19627984
2009