×
Entrez Id:
116931
Gene Symbol:
MED12L
MED12L
0.300
Biomarker
disease
GENOMICS_ENGLAND
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
31155615
2019
×
Entrez Id:
9969
Gene Symbol:
MED13
MED13
0.300
Biomarker
disease
GENOMICS_ENGLAND
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
29740699
2018
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
0.110
Biomarker
disease
BEFREE
MEF2C -related epilepsy has been poorly described in the literature, despite a consistent MEF2C haploinsufficiency phenotype characterized by severe language impairment and motor delay (MIM# 613443).
30922778
2019
×
Entrez Id:
203068
Gene Symbol:
TUBB
TUBB
0.110
GeneticVariation
disease
BEFREE
We have previously reported that mutations in TUBB5 cause microcephaly that is accompanied by severe intellectual impairment and motor delay .
28130172
2017
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
0.110
GeneticVariation
disease
BEFREE
We have previously reported that mutations in TUBB5 cause microcephaly that is accompanied by severe intellectual impairment and motor delay .
28130172
2017
×
Entrez Id:
6335
Gene Symbol:
SCN9A
SCN9A
0.110
Biomarker
disease
BEFREE
This is a case of global motor delay and erythromelalgia associated with SCN9A .
23893323
2014
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
0.110
GeneticVariation
disease
BEFREE
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.
22924536
2012
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
0.110
Biomarker
disease
HPO
×
Entrez Id:
6335
Gene Symbol:
SCN9A
SCN9A
0.110
Biomarker
disease
HPO
×
Entrez Id:
203068
Gene Symbol:
TUBB
TUBB
0.110
Biomarker
disease
HPO
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
0.110
Biomarker
disease
HPO
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
0.110
Biomarker
disease
HPO
×
Entrez Id:
10367
Gene Symbol:
MICU1
MICU1
0.100
Biomarker
disease
HPO
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
0.100
Biomarker
disease
HPO
×
Entrez Id:
55750
Gene Symbol:
AGK
AGK
0.100
Biomarker
disease
HPO
×
Entrez Id:
3070
Gene Symbol:
HELLS
HELLS
0.100
Biomarker
disease
HPO
×
Entrez Id:
10290
Gene Symbol:
SPEG
SPEG
0.100
Biomarker
disease
HPO
×
Entrez Id:
8898
Gene Symbol:
MTMR2
MTMR2
0.100
Biomarker
disease
HPO
×
Entrez Id:
8492
Gene Symbol:
PRSS12
PRSS12
0.100
Biomarker
disease
HPO
×
Entrez Id:
131377
Gene Symbol:
KLHL40
KLHL40
0.100
Biomarker
disease
HPO
×
Entrez Id:
4570
Gene Symbol:
TRNN
TRNN
0.100
Biomarker
disease
HPO
×
Entrez Id:
9581
Gene Symbol:
PREPL
PREPL
0.100
Biomarker
disease
HPO
×
Entrez Id:
191
Gene Symbol:
AHCY
AHCY
0.100
Biomarker
disease
HPO
×
Entrez Id:
54862
Gene Symbol:
CC2D1A
CC2D1A
0.100
Biomarker
disease
HPO
×
Entrez Id:
3653
Gene Symbol:
IPW
IPW
0.100
Biomarker
disease
HPO