| Multiple Mitochondrial Dysfunctions Syndrome |
C3502075 |
BOLA3
|
Causal
Pathogenic evidence from ClinVar
|
27604308 |
ClinVar |
|
IBA57
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ISCA1
|
Causal
Pathogenic evidence from ClinVar
|
28356563 |
ClinVar |
|
ISCA2
|
Causal
Pathogenic evidence from ClinVar
|
25539947, 25558065 |
ClinVar |
|
NFU1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Multiple mitochondrial dysfunctions syndrome type 2 |
401874 |
BOLA3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 |
C3809165 |
IBA57
|
Causal
Pathogenic evidence from ClinVar
|
23462291, 25971455, 27785568, 28671726 |
ClinVar |
| Multiple mitochondrial dysfunctions syndrome type 3 |
363424 |
IBA57
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 |
C4539919 |
ISCA1
|
Causal
Pathogenic evidence from ClinVar
|
28356563, 29767723, 30105122 |
ClinVar |
| Multiple mitochondrial dysfunctions syndrome type 5 |
569274 |
ISCA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 |
C4225348 |
ISCA2
|
Causal
Pathogenic evidence from ClinVar
|
25539947, 25558065, 29122497, 29297947, 29359243 |
ClinVar |
| Multiple mitochondrial dysfunctions syndrome type 4 |
457406 |
ISCA2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 |
C3276432 |
NFU1
|
Causal
Pathogenic evidence from ClinVar
|
11156534, 21944046, 22077971, 24334290, 24777537, 25918518, 27604308, 28161430, 28906594 |
ClinVar |
| Multiple mitochondrial dysfunctions syndrome type 1 |
401869 |
NFU1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 |
C4693741 |
PMPCB
|
Causal
Pathogenic evidence from ClinVar
|
29576218 |
ClinVar |
| Multiple mitochondrial dysfunctions syndrome type 6 |
569290 |
PMPCB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
