×
Entrez Id:
27245
Gene Symbol:
AHDC1
AHDC1
0.020
GeneticVariation
phenotype
BEFREE
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay , hypotonia, and sleep apnea.
24791903
2014
×
Entrez Id:
27245
Gene Symbol:
AHDC1
AHDC1
0.020
GeneticVariation
phenotype
BEFREE
(2014) De Novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay , hypotonia, and sleep apnea.Am.J. Hum.Genet., 94, 784-789].
25574029
2015
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
0.010
GeneticVariation
phenotype
BEFREE
In correlation with the exclusive deletion of SETBP1 , this study delimits a milder phenotype distinct from SGS overlapping with the previously described phenotype of del(18)(q12.2q21.1) syndrome including global developmental, expressive language delay and distinctive facial features.
21037274
2011
NPHP3-ACAD11
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
1778
Gene Symbol:
DYNC1H1
DYNC1H1
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
104472715
Gene Symbol:
SNHG14
SNHG14
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
GeneticVariation
phenotype
CLINVAR
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
28942966
2017
×
Entrez Id:
7337
Gene Symbol:
UBE3A
UBE3A
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
9772
Gene Symbol:
TMEM94
TMEM94
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
26053
Gene Symbol:
AUTS2
AUTS2
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
80816
Gene Symbol:
ASXL3
ASXL3
0.100
CausalMutation
phenotype
CLINVAR
NPHP3-ACAD11
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
2775
Gene Symbol:
GNAO1
GNAO1
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
phenotype
CLINVAR
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
28942966
2017
×
Entrez Id:
79876
Gene Symbol:
UBA5
UBA5
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
2902
Gene Symbol:
GRIN1
GRIN1
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
1859
Gene Symbol:
DYRK1A
DYRK1A
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
253738
Gene Symbol:
EBF3
EBF3
0.100
CausalMutation
phenotype
CLINVAR
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
28017372
2017
×
Entrez Id:
79876
Gene Symbol:
UBA5
UBA5
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
7874
Gene Symbol:
USP7
USP7
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
2782
Gene Symbol:
GNB1
GNB1
0.100
CausalMutation
phenotype
CLINVAR
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
27108799
2016
×
Entrez Id:
9968
Gene Symbol:
MED12
MED12
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
93986
Gene Symbol:
FOXP2
FOXP2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
201163
Gene Symbol:
FLCN
FLCN
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
10381
Gene Symbol:
TUBB3
TUBB3
0.100
Biomarker
phenotype
HPO