Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
|
26834045 |
2016 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
|
26834045 |
2016 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.
|
26048982 |
2015 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.
|
26048982 |
2015 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
|
24726472 |
2014 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
|
24726472 |
2014 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
|
24668509 |
2014 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
|
24668509 |
2014 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Structural and functional analysis of the DEAF-1 and BS69 MYND domains.
|
23372760 |
2013 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Structural and functional analysis of the DEAF-1 and BS69 MYND domains.
|
23372760 |
2013 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
|
23020937 |
2012 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
|
23020937 |
2012 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex.
|
22442688 |
2012 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex.
|
22442688 |
2012 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A de novo paradigm for mental retardation.
|
21076407 |
2010 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A de novo paradigm for mental retardation.
|
21076407 |
2010 |
Muscle hypotonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|