|
| 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: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
641371 |
| Gene Symbol: |
ACOT1 |
ACOT1
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
51412 |
| Gene Symbol: |
ACTL6B |
ACTL6B
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
23394 |
| Gene Symbol: |
ADNP |
ADNP
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
3899 |
| Gene Symbol: |
AFF3 |
AFF3
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
23287 |
| Gene Symbol: |
AGTPBP1 |
AGTPBP1
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
79053 |
| Gene Symbol: |
ALG8 |
ALG8
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
8289 |
| Gene Symbol: |
ARID1A |
ARID1A
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
170302 |
| Gene Symbol: |
ARX |
ARX
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
80816 |
| Gene Symbol: |
ASXL3 |
ASXL3
|
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: |
513 |
| Gene Symbol: |
ATP5F1D |
ATP5F1D
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
|
29478781 |
2018 |
|
| Entrez Id: |
538 |
| Gene Symbol: |
ATP7A |
ATP7A
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
84126 |
| Gene Symbol: |
ATRIP |
ATRIP
|
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: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
2186 |
| Gene Symbol: |
BPTF |
BPTF
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |
|
| Entrez Id: |
2186 |
| Gene Symbol: |
BPTF |
BPTF
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
818 |
| Gene Symbol: |
CAMK2G |
CAMK2G
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
55636 |
| Gene Symbol: |
CHD7 |
CHD7
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
8506 |
| Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
|
| Entrez Id: |
91949 |
| Gene Symbol: |
COG7 |
COG7
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|