|
| Entrez Id: |
259232 |
| Gene Symbol: |
NALCN |
NALCN
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
| Entrez Id: |
4285 |
| Gene Symbol: |
MIPEP |
MIPEP
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
|
27799064 |
2016 |
|
| Entrez Id: |
10522 |
| Gene Symbol: |
DEAF1 |
DEAF1
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
|
24668509 |
2014 |
|
| Entrez Id: |
5476 |
| Gene Symbol: |
CTSA |
CTSA
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
|
| 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: |
6607 |
| Gene Symbol: |
SMN2 |
SMN2
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.
|
24498607 |
2013 |
|
| 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: |
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: |
6606 |
| Gene Symbol: |
SMN1 |
SMN1
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Spinal muscular atrophy diagnostics.
|
17761649 |
2007 |
|
| Entrez Id: |
6607 |
| Gene Symbol: |
SMN2 |
SMN2
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Spinal muscular atrophy diagnostics.
|
17761649 |
2007 |
|
| Entrez Id: |
5476 |
| Gene Symbol: |
CTSA |
CTSA
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
|
10944848 |
2000 |
|
| Entrez Id: |
5476 |
| Gene Symbol: |
CTSA |
CTSA
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
|
8968752 |
1996 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
1593 |
| Gene Symbol: |
CYP27A1 |
CYP27A1
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
SCN1A-AS1
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
91949 |
| Gene Symbol: |
COG7 |
COG7
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
2720 |
| Gene Symbol: |
GLB1 |
GLB1
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
6326 |
| Gene Symbol: |
SCN2A |
SCN2A
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
55904 |
| Gene Symbol: |
KMT2E |
KMT2E
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
22983 |
| Gene Symbol: |
MAST1 |
MAST1
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
284217 |
| Gene Symbol: |
LAMA1 |
LAMA1
|
Generalized hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5518 |
| Gene Symbol: |
PPP2R1A |
PPP2R1A
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
55636 |
| Gene Symbol: |
CHD7 |
CHD7
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
57479 |
| Gene Symbol: |
PRR12 |
PRR12
|
Generalized hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|