rs1057519565
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Relative macrocephaly
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057519565
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Seizures
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057519565
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Absent speech
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057519565
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Acid reflux
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057519565
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519565
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Developmental regression
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057519565
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Autistic behavior
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057519565
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057519565
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Poor school performance
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057519565
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Large hand
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057524157
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Overriding toe
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |
rs1057524157
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Aggressive behavior
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |
rs1057524157
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
2-3 toe syndactyly
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057524157
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Generalized hypotonia
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057524157
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Absent speech
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057524157
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Self-Injurious Behavior
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057524157
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Global developmental delay
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |
rs1057524157
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Tremor
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |
rs1057524157
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Aggressive behavior
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057524157
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |
rs1057524157
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Developmental regression
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057524157
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Flatfoot
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057524157
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Recurrent otitis media
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057524157
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Repetitive compulsive behavior
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057524157
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
Self-Injurious Behavior
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |