|
| Entrez Id: |
79053 |
| Gene Symbol: |
ALG8 |
ALG8
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
18 |
| Gene Symbol: |
ABAT |
ABAT
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
|
20052547 |
2010 |
|
| Entrez Id: |
7507 |
| Gene Symbol: |
XPA |
XPA
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
6664 |
| Gene Symbol: |
SOX11 |
SOX11
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
10716 |
| Gene Symbol: |
TBR1 |
TBR1
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
22907 |
| Gene Symbol: |
DHX30 |
DHX30
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
6606 |
| Gene Symbol: |
SMN1 |
SMN1
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.
|
24498607 |
2013 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
| Entrez Id: |
5373 |
| Gene Symbol: |
PMM2 |
PMM2
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
57531 |
| Gene Symbol: |
HACE1 |
HACE1
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
3796 |
| Gene Symbol: |
KIF2A |
KIF2A
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
25880 |
| Gene Symbol: |
TMEM186 |
TMEM186
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
|
20052547 |
2010 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
1476 |
| Gene Symbol: |
CSTB |
CSTB
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
4750 |
| Gene Symbol: |
NEK1 |
NEK1
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
538 |
| Gene Symbol: |
ATP7A |
ATP7A
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
4210 |
| Gene Symbol: |
MEFV |
MEFV
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
818 |
| Gene Symbol: |
CAMK2G |
CAMK2G
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
29911 |
| Gene Symbol: |
HOOK2 |
HOOK2
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
478 |
| Gene Symbol: |
ATP1A3 |
ATP1A3
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
| Entrez Id: |
55023 |
| Gene Symbol: |
PHIP |
PHIP
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
11277 |
| Gene Symbol: |
TREX1 |
TREX1
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
| Entrez Id: |
8289 |
| Gene Symbol: |
ARID1A |
ARID1A
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
3908 |
| Gene Symbol: |
LAMA2 |
LAMA2
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|