|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
|
27389779 |
2017 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice.
|
28867767 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice.
|
28867767 |
2017 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
|
27389779 |
2017 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.
|
26395437 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.
|
26395437 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.
|
26376624 |
2015 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
ARID1B-mediated disorders: Mutations and possible mechanisms.
|
25674384 |
2015 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
ARID1B-mediated disorders: Mutations and possible mechanisms.
|
25674384 |
2015 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.
|
26376624 |
2015 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The ARID1B phenotype: what we have learned so far.
|
25169814 |
2014 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
|
24674232 |
2014 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
The ARID1B phenotype: what we have learned so far.
|
25169814 |
2014 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
|
24674232 |
2014 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
The contribution of de novo coding mutations to autism spectrum disorder.
|
25363768 |
2014 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.
|
24569609 |
2014 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.
|
24569609 |
2014 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The contribution of de novo coding mutations to autism spectrum disorder.
|
25363768 |
2014 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
|
23906836 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
|
24267886 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
|
23929686 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
|
24267886 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
|
23929686 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
|
23906836 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
|
22405089 |
2012 |