rs886041382
|
Entrez Id: |
11152 |
Gene Symbol: |
WDR45 |
WDR45
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.
|
28932395 |
2017 |
rs886041382
|
Entrez Id: |
11152 |
Gene Symbol: |
WDR45 |
WDR45
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.
|
26173968 |
2016 |
rs886041382
|
Entrez Id: |
11152 |
Gene Symbol: |
WDR45 |
WDR45
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.
|
25592411 |
2015 |
rs886041382
|
Entrez Id: |
11152 |
Gene Symbol: |
WDR45 |
WDR45
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.
|
24621584 |
2014 |
rs886041382
|
Entrez Id: |
11152 |
Gene Symbol: |
WDR45 |
WDR45
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.
|
24847269 |
2014 |
rs886041382
|
Entrez Id: |
11152 |
Gene Symbol: |
WDR45 |
WDR45
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Early manifestations of BPAN in a pediatric patient.
|
25263061 |
2014 |
rs886041382
|
Entrez Id: |
11152 |
Gene Symbol: |
WDR45 |
WDR45
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
|
23687123 |
2013 |
rs886041382
|
Entrez Id: |
11152 |
Gene Symbol: |
WDR45 |
WDR45
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.
|
23435086 |
2013 |
rs886041382
|
Entrez Id: |
11152 |
Gene Symbol: |
WDR45 |
WDR45
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
|
23176820 |
2012 |
rs886041382
|
Entrez Id: |
11152 |
Gene Symbol: |
WDR45 |
WDR45
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Network organization of the human autophagy system.
|
20562859 |
2010 |