| MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 |
C4015388 |
PLK4
|
Causal
Pathogenic evidence from ClinVar
|
25344692 |
ClinVar |
| Microcephaly with Chorioretinopathy, Autosomal Recessive |
C3502492 |
PLK4
|
Causal
Pathogenic evidence from ClinVar
|
27650967 |
ClinVar |
|
TUBGCP4
|
Causal
Pathogenic evidence from ClinVar
|
25817018 |
ClinVar |
|
TUBGCP6
|
Causal
Pathogenic evidence from ClinVar
|
22279524 |
ClinVar |
|
TP53BP1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
25817018 |
- |
| MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 |
C4225362 |
TUBGCP4
|
Causal
Pathogenic evidence from ClinVar
|
25817018 |
ClinVar |
|
TP53BP1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 |
C3278481 |
TUBGCP6
|
Causal
Pathogenic evidence from ClinVar
|
22279524 |
ClinVar |
| Microcephaly with Chorioretinopathy, Autosomal Dominant |
C3501946 |
KIF11
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22284827 |
- |
