| Microcephaly |
C0025958 |
KIF14
|
Causal
Pathogenic evidence from ClinVar
|
24128419 |
ClinVar |
|
KMT2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KMT2D
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KNL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MCPH1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MFSD2A
|
Causal
Pathogenic evidence from ClinVar
|
26005865, 26005868 |
ClinVar |
|
NCAPD3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NCAPH
|
Causal
Pathogenic evidence from ClinVar
|
27737959 |
ClinVar |
|
NUP37
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PHC1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PQBP1
|
Causal
Pathogenic evidence from ClinVar
|
14634649, 15024694, 16740914 |
ClinVar |
|
RTTN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SASS6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SBF1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SMC1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
STIL
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TCF4
|
Causal
Pathogenic evidence from ClinVar
|
18728071 |
ClinVar |
|
TP53RK
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TRAPPC14
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE |
C4693572 |
KIF14
|
Causal
Pathogenic evidence from ClinVar
|
28892560, 29343805, 30388224 |
ClinVar |
| Autosomal recessive primary microcephaly |
2512 |
KNL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MCPH1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MFSD2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NCAPD3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PHC1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SASS6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
STIL
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TRAPPC14
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal Recessive Primary Microcephaly |
C3711387 |
KNL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MCPH1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MFSD2A
|
Causal
Pathogenic evidence from ClinVar
|
26005865, 26005868 |
ClinVar |
|
NCAPD3
|
Causal
Pathogenic evidence from ClinVar
|
27737959 |
ClinVar |
|
PHC1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SASS6
|
Causal
Pathogenic evidence from ClinVar
|
24951542 |
ClinVar |
|
STIL
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TRAPPC14
|
Causal
Pathogenic evidence from ClinVar
|
30715179 |
ClinVar |
| MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE |
C1858516 |
KNL1
|
Causal
Pathogenic evidence from ClinVar
|
22983954, 26626498 |
ClinVar |
| Primary microcephaly |
C0431350 |
KNL1
|
Causal
Pathogenic evidence from ClinVar
|
22983954 |
ClinVar |
|
MCPH1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PHC1
|
Causal
Pathogenic evidence from ClinVar
|
25548773 |
ClinVar |
|
RTTN
|
Causal
Pathogenic evidence from ClinVar
|
22939636 |
ClinVar |
|
STIL
|
Causal
Pathogenic evidence from ClinVar
|
25218063 |
ClinVar |
| MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 |
C1855081 |
MCPH1
|
Causal
Pathogenic evidence from ClinVar
|
12046007, 15199523, 16211557, 20978018 |
ClinVar |
| MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE |
C4225310 |
MFSD2A
|
Causal
Pathogenic evidence from ClinVar
|
12046007, 26005865, 26005868 |
ClinVar |
| MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE |
C4693834 |
NCAPD3
|
Causal
Pathogenic evidence from ClinVar
|
27737959 |
ClinVar |
| MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE |
C4693843 |
NCAPH
|
Causal
Pathogenic evidence from ClinVar
|
27737959 |
ClinVar |
| MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE |
C4748555 |
NUP37
|
Causal
Pathogenic evidence from ClinVar
|
30179222 |
ClinVar |
| MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE |
C3809431 |
PHC1
|
Causal
Pathogenic evidence from ClinVar
|
23418308, 25548773, 25558065 |
ClinVar |
| MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE |
C4225338 |
SASS6
|
Causal
Pathogenic evidence from ClinVar
|
24951542 |
ClinVar |
| MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder) |
C2675187 |
STIL
|
Causal
Pathogenic evidence from ClinVar
|
19215732, 22989186, 25218063 |
ClinVar |
