| Weill-Marchesani syndrome |
3449, C0265313 |
ADAMTS10
|
Causal
Pathogenic evidence from ClinVar
|
15368195 |
ClinVar |
|
FBN1
|
Causal
Pathogenic evidence from ClinVar
|
12068374, 12525539 |
ClinVar |
|
LTBP2
|
Causal
Pathogenic evidence from ClinVar
|
22539340 |
ClinVar |
| WEILL-MARCHESANI SYNDROME 1 |
C4552002 |
ADAMTS10
|
Causal
Pathogenic evidence from ClinVar
|
15368195, 18567016, 30060141 |
ClinVar |
|
LTBP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Weill-Marchesani Syndrome, Autosomal Dominant |
C1869115 |
ADAMTS10
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FBN1
|
Causal
Pathogenic evidence from ClinVar
|
1301946, 7762551, 8406497, 20082464, 24896178 |
ClinVar |
|
LTBP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Weill-Marchesani Syndrome, Autosomal Recessive |
C1869114 |
ADAMTS10
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FBN1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LTBP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Weill-Marchesani-Like Syndrome |
C2750787 |
ADAMTS17
|
Causal
Pathogenic evidence from ClinVar
|
19836009, 30712880 |
ClinVar |
|
CERS3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
23754960 |
- |
| WEILL-MARCHESANI SYNDROME 3 |
C3553785 |
LTBP2
|
Causal
Pathogenic evidence from ClinVar
|
22539340 |
ClinVar |
