| Microcephaly |
C0025958 |
AAAS
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ACTG1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ANKLE2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ASPM
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ASXL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CDK5RAP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CDK6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CENPE
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP135
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP152
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CIT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COPB2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CTU2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DHCR7
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
EP300
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal recessive primary microcephaly |
2512 |
ANKLE2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ASPM
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CDK5RAP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CDK6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP135
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP152
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CIT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COPB2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KIF14
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal Recessive Primary Microcephaly |
C3711387 |
ANKLE2
|
Causal
Pathogenic evidence from ClinVar
|
25259927 |
ClinVar |
|
ASPM
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CDK5RAP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CDK6
|
Causal
Pathogenic evidence from ClinVar
|
23918663 |
ClinVar |
|
CEP135
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP152
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CIT
|
Causal
Pathogenic evidence from ClinVar
|
27453578 |
ClinVar |
|
COPB2
|
Causal
Pathogenic evidence from ClinVar
|
29036432 |
ClinVar |
|
KIF14
|
Causal
Pathogenic evidence from ClinVar
|
28892560 |
ClinVar |
| MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE |
C4225249 |
ANKLE2
|
Causal
Pathogenic evidence from ClinVar
|
25259927 |
ClinVar |
| MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 |
C1855081 |
ASPM
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Microcephaly, Primary Autosomal Recessive, 5 |
C1837501 |
ASPM
|
Causal
Pathogenic evidence from ClinVar
|
12355089, 19770472, 29706646 |
ClinVar |
| Primary microcephaly |
C0431350 |
ASPM
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CDK5RAP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP135
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP152
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CIT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Microcephaly, Primary Autosomal Recessive, 3 |
C1858108 |
CDK5RAP2
|
Causal
Pathogenic evidence from ClinVar
|
15793586, 27761245, 28778786 |
ClinVar |
| MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE |
C4015156 |
CDK6
|
Causal
Pathogenic evidence from ClinVar
|
23918663 |
ClinVar |
| MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE |
C4015080 |
CENPE
|
Causal
Pathogenic evidence from ClinVar
|
24748105 |
ClinVar |
| MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE |
C3553414 |
CEP135
|
Causal
Pathogenic evidence from ClinVar
|
22521416 |
ClinVar |
| MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE |
C1858516 |
CEP152
|
Causal
Pathogenic evidence from ClinVar
|
21131973 |
ClinVar |
| MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE |
C3553886 |
CEP152
|
Causal
Pathogenic evidence from ClinVar
|
20598275 |
ClinVar |
| MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE |
C3809431 |
CIT
|
Causal
Pathogenic evidence from ClinVar
|
27453578 |
ClinVar |
| MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE |
C4310723 |
CIT
|
Causal
Pathogenic evidence from ClinVar
|
27453578, 27453579, 27503289, 27519304 |
ClinVar |
| MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE |
C4540488 |
COPB2
|
Causal
Pathogenic evidence from ClinVar
|
29036432 |
ClinVar |
