| Adult Sandhoff Disease |
C0751489 |
HEXB
|
Causal
Pathogenic evidence from ClinVar
|
20798201 |
ClinVar |
| Infantile Sandhoff Disease |
C0751490 |
HEXB
|
Causal
Pathogenic evidence from ClinVar
|
20798201 |
ClinVar |
| Juvenile Sandhoff Disease |
C0751491 |
HEXB
|
Causal
Pathogenic evidence from ClinVar
|
20798201 |
ClinVar |
| Sandhoff Disease |
C0036161 |
HEXB
|
Causal
Pathogenic evidence from ClinVar
|
1386607, 1531140, 1532910, 1720305, 2147031, 2170400, 2522450, 7550345, 7557963, 7626071, 7633435, 8076944, 8162015, 8357844, 8950198, 9401004, 9475608, 9562328, 9694901, 9856491, 12166653, 17015493, 17237499, 18758829, 19823769, 20798201, 20926324, 21150067, 21483992, 21567908, 22789865, 22848519, 23010210, 23046579, 23113155, 23127958, 23759947, 24263030, 24356898, 24613245, 25525159, 25736553, 26582265, 27021291, 27604308, 27682710, 29448188 |
ClinVar |
| Sandhoff disease, adult form |
309169 |
HEXB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Sandhoff Disease, Adult Type |
C1849320 |
HEXB
|
Causal
Pathogenic evidence from ClinVar
|
20798201 |
ClinVar |
| SANDHOFF DISEASE, CHRONIC |
C4310842 |
HEXB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Sandhoff disease, infantile form |
309155 |
HEXB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Sandhoff Disease, Infantile Type |
C1849322 |
HEXB
|
Causal
Pathogenic evidence from ClinVar
|
20798201 |
ClinVar |
| Sandhoff disease, juvenile form |
309162 |
HEXB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Sandhoff Disease, Juvenile Type |
C1849321 |
HEXB
|
Causal
Pathogenic evidence from ClinVar
|
20798201 |
ClinVar |
