|
| Entrez Id: |
1384 |
| Gene Symbol: |
CRAT |
CRAT
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
|
31448845 |
2020 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.
|
25914885 |
2019 |
|
| Entrez Id: |
2775 |
| Gene Symbol: |
GNAO1 |
GNAO1
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.
|
28503590 |
2019 |
|
| Entrez Id: |
7355 |
| Gene Symbol: |
SLC35A2 |
SLC35A2
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
|
| Entrez Id: |
547 |
| Gene Symbol: |
KIF1A |
KIF1A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
|
28708278 |
2018 |
|
| Entrez Id: |
1778 |
| Gene Symbol: |
DYNC1H1 |
DYNC1H1
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.
|
29243232 |
2018 |
|
| Entrez Id: |
8621 |
| Gene Symbol: |
CDK13 |
CDK13
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.
|
29222009 |
2018 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
|
29097605 |
2018 |
|
| Entrez Id: |
55209 |
| Gene Symbol: |
SETD5 |
SETD5
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
|
28881385 |
2018 |
|
| Entrez Id: |
53335 |
| Gene Symbol: |
BCL11A |
BCL11A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
|
28960836 |
2018 |
|
| Entrez Id: |
497258 |
| Gene Symbol: |
BDNF-AS |
BDNF-AS
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
|
28397838 |
2018 |
|
| Entrez Id: |
55209 |
| Gene Symbol: |
SETD5 |
SETD5
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
|
28866611 |
2018 |
|
| Entrez Id: |
53335 |
| Gene Symbol: |
BCL11A |
BCL11A
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.
|
28589569 |
2018 |
|
| Entrez Id: |
537 |
| Gene Symbol: |
ATP6AP1 |
ATP6AP1
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
|
29396028 |
2018 |
|
| Entrez Id: |
1778 |
| Gene Symbol: |
DYNC1H1 |
DYNC1H1
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.
|
29243232 |
2018 |
|
| Entrez Id: |
55690 |
| Gene Symbol: |
PACS1 |
PACS1
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.
|
28975623 |
2018 |
|
| Entrez Id: |
284403 |
| Gene Symbol: |
WDR62 |
WDR62
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.
|
28386937 |
2018 |
|
| Entrez Id: |
23389 |
| Gene Symbol: |
MED13L |
MED13L
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
|
29159987 |
2018 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Expanding the neurodevelopmental phenotype of PURA syndrome.
|
29150892 |
2018 |
|
| Entrez Id: |
284403 |
| Gene Symbol: |
WDR62 |
WDR62
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.
|
28386937 |
2018 |
|
| Entrez Id: |
79813 |
| Gene Symbol: |
EHMT1 |
EHMT1
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.
|
29160022 |
2018 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Expanding the neurodevelopmental phenotype of PURA syndrome.
|
29150892 |
2018 |
|
| Entrez Id: |
80155 |
| Gene Symbol: |
NAA15 |
NAA15
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
|
28990276 |
2018 |
|
| Entrez Id: |
1892 |
| Gene Symbol: |
ECHS1 |
ECHS1
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.
|
28755360 |
2018 |
|
| Entrez Id: |
89910 |
| Gene Symbol: |
UBE3B |
UBE3B
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
|
29160006 |
2018 |