×
Entrez Id:
6712
Gene Symbol:
SPTBN2
SPTBN2
Global developmental delay
0.440
Biomarker
GENOMICS_ENGLAND
Progressive SCAR14 with unclear speech, developmental delay , tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.
28636205
2017
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
Global developmental delay
0.440
Biomarker
GENOMICS_ENGLAND
A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.
27725288
2016
×
Entrez Id:
2782
Gene Symbol:
GNB1
GNB1
Global developmental delay
0.420
Biomarker
GENOMICS_ENGLAND
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
28087732
2017
×
Entrez Id:
10735
Gene Symbol:
STAG2
STAG2
Global developmental delay
0.420
Biomarker
GENOMICS_ENGLAND
Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability.
25450604
2015
×
Entrez Id:
3480
Gene Symbol:
IGF1R
IGF1R
Global developmental delay
0.420
Biomarker
GENOMICS_ENGLAND
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.
23045302
2013
×
Entrez Id:
23334
Gene Symbol:
SZT2
SZT2
Global developmental delay
0.420
Biomarker
GENOMICS_ENGLAND
An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.
24324832
2013
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Global developmental delay
0.420
Biomarker
GENOMICS_ENGLAND
Clinical and brain MRI follow-up study of a family with COL4A1 mutation.
17938367
2007
×
Entrez Id:
1822
Gene Symbol:
ATN1
ATN1
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
To distinguish this subset of affected individuals from the DRPLA diagnosis, we suggest using the term CHEDDA (congenital hypotonia, epilepsy, developmental delay , digit abnormalities) to classify the condition.
30827498
2019
×
Entrez Id:
5515
Gene Symbol:
PPP2CA
PPP2CA
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
We now report 16 individuals with mild to profound ID and DD and a de novo mutation in PPP2CA , encoding the catalytic Cα subunit.
30595372
2019
×
Entrez Id:
55904
Gene Symbol:
KMT2E
KMT2E
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater.
31079897
2019
×
Entrez Id:
6942
Gene Symbol:
TCF20
TCF20
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
30525188
2019
×
Entrez Id:
6659
Gene Symbol:
SOX4
SOX4
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
Using trio-based exome sequencing, we here identify de novo SOX4 heterozygous missense variants in four children who share developmental delay , intellectual disability, and mild facial and digital morphological abnormalities.
30661772
2019
×
Entrez Id:
51412
Gene Symbol:
ACTL6B
ACTL6B
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
Autozygome and high throughput confirmation of disease genes candidacy.
30237576
2019
×
Entrez Id:
6601
Gene Symbol:
SMARCC2
SMARCC2
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay .
30580808
2019
×
Entrez Id:
5879
Gene Symbol:
RAC1
RAC1
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay , brain malformations, and additional phenotypes.
28886345
2017
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
26919706
2016
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
26919706
2016
×
Entrez Id:
23028
Gene Symbol:
KDM1A
KDM1A
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
De novo variants in KDM1A underlie a new syndrome characterized by developmental delay and distinctive facial features.
26656649
2016
×
Entrez Id:
57178
Gene Symbol:
ZMIZ1
ZMIZ1
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
27479843
2016
×
Entrez Id:
84231
Gene Symbol:
TRAF7
TRAF7
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
Excess of rare, inherited truncating mutations in autism.
25961944
2015
×
Entrez Id:
84231
Gene Symbol:
TRAF7
TRAF7
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
Excess of rare, inherited truncating mutations in autism.
25961944
2015
×
Entrez Id:
57178
Gene Symbol:
ZMIZ1
ZMIZ1
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations.
26163108
2015
×
Entrez Id:
10297
Gene Symbol:
APC2
APC2
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
Directional neuronal migration is impaired in mice lacking adenomatous polyposis coli 2.
22573669
2012
×
Entrez Id:
10297
Gene Symbol:
APC2
APC2
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
Directional neuronal migration is impaired in mice lacking adenomatous polyposis coli 2.
22573669
2012
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Global developmental delay
0.410
Biomarker
GENOMICS_ENGLAND
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
18697827
2008