| Rhizomelic chondrodysplasia punctata type 3 |
309803 |
AGPS
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Rhizomelic chondrodysplasia punctata, type 3 |
C1838612 |
AGPS
|
Causal
Pathogenic evidence from ClinVar
|
9553082, 11152660, 21990100, 24849933, 27604308 |
ClinVar |
| Rhizomelic chondrodysplasia punctata type 2 |
309796 |
GNPAT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Rhizomelic chondrodysplasia punctata, type 2 |
C1857242 |
GNPAT
|
Causal
Pathogenic evidence from ClinVar
|
1405476, 9536089, 11152660, 21990100, 27604308 |
ClinVar |
| Rhizomelic chondrodysplasia punctata type 5 |
468717 |
PEX5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 |
C4225237 |
PEX5
|
Causal
Pathogenic evidence from ClinVar
|
18712838, 26220973 |
ClinVar |
| Rhizomelic chondrodysplasia punctata type 1 |
309789 |
PEX7
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 |
C1859133 |
PEX7
|
Causal
Pathogenic evidence from ClinVar
|
7719337, 9090381, 9090382, 9090383, 10083738, 10673331, 11756410, 11781871, 12325024, 12522768, 14974078, 17325280, 21465523, 21990100, 22057399, 23352163, 23572185, 25851898, 26408048, 26587300, 27604308 |
ClinVar |
