| Microcephaly |
C0025958 |
AARS1
|
|
|
ACADSB
|
|
|
ACTB
|
|
|
ACTG1
|
|
|
ACTG2
|
|
|
ADAR
|
|
|
ADD3
|
|
|
ADSL
|
|
|
AGA
|
|
|
AGT
|
|
|
AGTR1
|
|
|
AHCY
|
|
|
AHSG
|
|
|
ALDH3A2
|
|
|
ANK1
|
|
|
ARCN1
|
|
|
ARSL
|
|
|
ARVCF
|
|
|
RERE
|
|
|
ATP1A2
|
30690204 |
|
ATP5F1A
|
|
|
ATP6V1A
|
|
|
ATP7A
|
|
|
ATR
|
|
|
ATRX
|
|
|
KIF1A
|
|
|
AUH
|
|
|
BCR
|
|
|
BDNF
|
|
|
BLM
|
|
|
BMP4
|
|
|
BRCA1
|
|
|
BRCA2
|
|
|
BUB1
|
|
|
BUB1B
|
15475955 |
|
CACNA1A
|
|
|
CACNA1B
|
|
|
SLC25A20
|
|
|
CARS1
|
30824121 |
|
ENTPD1
|
|
|
CDC6
|
|
|
CDH11
|
|
|
CDK5
|
|
|
CDK6
|
|
|
CENPE
|
|
|
CENPF
|
25564561 |
|
CHKB
|
|
|
CHN1
|
|
|
CHRNA7
|
|
|
CHRNG
|
|
|
CHUK
|
|
|
ERCC8
|
|
|
CLCN4
|
|
|
CLTC
|
|
|
COL4A1
|
|
|
COMT
|
|
|
COX7B
|
|
|
COX15
|
|
|
CPT2
|
|
|
CREBBP
|
|
|
CRKL
|
|
|
CSNK2A1
|
|
|
CTBP1
|
|
|
CTNNB1
|
|
|
CTNND2
|
|
|
CTSD
|
|
|
CYB5A
|
|
|
DAG1
|
|
|
ACE
|
|
|
DDB2
|
|
|
DDX3X
|
|
|
DDX11
|
|
|
DGUOK
|
|
|
DHCR7
|
|
|
DHCR24
|
|
|
CYB5R3
|
|
|
DIAPH1
|
|
|
DKC1
|
|
|
DLAT
|
|
|
DLD
|
|
|
DNM1
|
|
|
DNA2
|
|
|
DYNC1H1
|
23603762 |
|
DYNC1I2
|
31079899 |
|
DNMT3A
|
30478443 |
|
DPAGT1
|
|
|
DPP6
|
|
|
DPYD
|
|
|
DYRK1A
|
25944381 |
|
PHC1
|
|
|
EEF1A2
|
|
|
EFNB1
|
|
|
EGF
|
|
|
EIF2S3
|
28055140 |
|
ELN
|
|
|
EP300
|
|
|
ERCC1
|
|
|
ERCC2
|
|
|
ERCC3
|
|
|
ERCC4
|
|
|
ERCC5
|
|
|
ERCC6
|
18628313, 10739753 |
|
EXT1
|
|
|
EXT2
|
|
|
FANCA
|
|
|
FANCC
|
|
|
FANCD2
|
|
|
FANCE
|
|
|
BPTF
|
|
|
FANCB
|
|
|
FANCF
|
|
|
FANCG
|
|
|
FBN1
|
|
|
FKTN
|
|
|
FGF8
|
|
|
FGF12
|
|
|
FGFR1
|
|
|
FGFR3
|
|
|
FH
|
|
|
FOXG1
|
18627055 |
|
FLII
|
|
|
FSHR
|
|
|
NR5A1
|
|
|
FUT8
|
|
|
KDSR
|
|
|
GABRB2
|
|
|
GABRD
|
|
|
GABRG2
|
|
|
GAD1
|
|
|
GAS1
|
|
|
GATA4
|
|
|
GBA
|
|
|
GJA1
|
|
|
GJA5
|
|
|
GJA8
|
|
|
GJB3
|
|
|
GLI2
|
|
|
GNAO1
|
|
|
GOT2
|
31422819 |
|
GP1BB
|
|
|
GRIA4
|
|
|
GRIK2
|
|
|
GRIN2D
|
|
|
GTF2E2
|
|
|
GTF2I
|
|
|
BRF1
|
|
|
HBA1
|
|
|
HBA2
|
|
|
HCCS
|
|
|
HCFC1
|
|
|
HMGB3
|
|
|
HMGCL
|
|
|
HNMT
|
|
|
HNRNPU
|
|
|
HSPG2
|
|
|
NDST1
|
|
|
IARS1
|
27426735 |
|
SP110
|
|
|
IGF1
|
|
|
IGF1R
|
|
|
RBPJ
|
|
|
INSR
|
|
|
ITGA3
|
|
|
ITGB6
|
|
|
STT3A
|
|
|
ITPA
|
|
|
KCNA1
|
|
|
KCNA2
|
|
|
KCNA4
|
|
|
KCNB1
|
|
|
KCNJ2
|
|
|
KCNJ6
|
|
|
KCNJ11
|
|
|
KIF2A
|
23603762 |
|
KIF5A
|
|
|
KIF5C
|
23603762 |
|
KIT
|
|
|
KIF11
|
|
|
L1CAM
|
|
|
LETM1
|
|
|
LFNG
|
|
|
LIG4
|
11779494 |
|
LIMK1
|
|
|
LRP5
|
|
|
LSS
|
29016354 |
|
LTC4S
|
|
|
SMAD4
|
|
|
MCM4
|
|
|
MCM5
|
|
|
MECP2
|
|
|
MEIS2
|
|
|
MGAT2
|
|
|
KMT2A
|
|
|
ALDH6A1
|
|
|
MOCS1
|
|
|
MOCS2
|
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
MTHFR
|
|
|
ND1
|
|
|
ND2
|
|
|
ND3
|
|
|
ND4
|
|
|
ND5
|
|
|
ND6
|
|
|
TRNF
|
|
|
TRNH
|
|
|
TRNL1
|
|
|
TRNQ
|
|
|
TRNS1
|
|
|
TRNS2
|
|
|
TRNW
|
|
|
MVK
|
|
|
MYCN
|
|
|
MYH3
|
|
|
NBN
|
|
|
NDP
|
|
|
NDUFA1
|
|
|
NDUFA6
|
|
|
NDUFB3
|
|
|
NDUFB9
|
|
|
NDUFB10
|
|
|
NDUFS1
|
|
|
NDUFS2
|
|
|
NDUFS3
|
|
|
NDUFV1
|
|
|
NDUFS4
|
|
|
NDUFS6
|
|
|
NDUFS8
|
|
|
NDUFV2
|
|
|
NEUROD2
|
|
|
NF1
|
|
|
NODAL
|
|
|
NTRK2
|
|
|
SIX6
|
|
|
ORC1
|
21358633 |
|
ORC4
|
|
|
PRDX1
|
|
|
PAH
|
|
|
PAK3
|
|
|
PARN
|
|
|
PAX3
|
|
|
PAX6
|
|
|
PCNT
|
|
|
PDGFB
|
|
|
PDGFRB
|
|
|
PDHA1
|
|
|
PEX1
|
|
|
PEX6
|
|
|
PEX7
|
|
|
PEX10
|
|
|
PEX12
|
|
|
PEX13
|
|
|
PEX14
|
|
|
PIGC
|
|
|
PLP1
|
|
|
PMM2
|
|
|
EXOSC9
|
|
|
POLA1
|
|
|
POLE
|
|
|
POLG
|
|
|
POR
|
|
|
PPP3CA
|
|
|
PRKD1
|
|
|
PRKDC
|
|
|
MAPK1
|
|
|
MASP1
|
|
|
RELN
|
|
|
PSPH
|
|
|
PTCH1
|
|
|
PTS
|
|
|
PEX19
|
|
|
PEX2
|
|
|
PEX5
|
|
|
PYCR1
|
|
|
ALDH18A1
|
|
|
QARS1
|
|
|
QDPR
|
|
|
RAC1
|
|
|
RAD21
|
|
|
RAD51
|
|
|
RAD51C
|
|
|
RAP1A
|
|
|
RAP1B
|
|
|
RARS1
|
|
|
RB1
|
|
|
RBBP8
|
|
|
REN
|
|
|
DPF2
|
|
|
RFC2
|
|
|
RPL10
|
|
|
RPS6KA3
|
|
|
RPS23
|
|
|
RREB1
|
|
|
CLIP1
|
|
|
SALL1
|
|
|
SARS1
|
|
|
SBF1
|
|
|
MSMO1
|
|
|
SC5D
|
|
|
SCN2A
|
|
|
SCN3A
|
|
|
SCN8A
|
|
|
SET
|
|
|
SHH
|
|
|
ST3GAL3
|
|
|
STIL
|
|
|
SIM1
|
|
|
SIX3
|
|
|
SKI
|
|
|
SLC1A2
|
|
|
SLC2A1
|
10980529, 9462754 |
|
SLC6A8
|
|
|
SLC16A2
|
|
|
SLC20A2
|
|
|
SNAI2
|
|
|
SMARCA2
|
|
|
SMARCA4
|
|
|
SMARCB1
|
|
|
SMARCC2
|
|
|
SMARCE1
|
|
|
SNRPB
|
|
|
SOX2
|
|
|
SOX4
|
|
|
SOX11
|
|
|
SPR
|
|
|
SSR4
|
|
|
CDKL5
|
|
|
STXBP1
|
|
|
ABCC8
|
|
|
TAF1
|
|
|
TAF6
|
|
|
TAF13
|
|
|
TAT
|
|
|
TBX1
|
|
|
TBCD
|
27666370, 27666374 |
|
TBCE
|
|
|
TBX6
|
|
|
TCF4
|
18728071 |
|
TDGF1
|
|
|
TERT
|
|
|
TFAP2A
|
|
|
TGIF1
|
|
|
NKX2-1
|
|
|
TOP3A
|
|
|
TP53
|
|
|
TRIO
|
|
|
TRPS1
|
|
|
TUBG1
|
23603762 |
|
TUFM
|
|
|
HIRA
|
|
|
UFD1
|
|
|
SLC35A2
|
|
|
KDM6A
|
|
|
EZR
|
|
|
CLIP2
|
|
|
WHCR
|
|
|
NSD2
|
30244530 |
|
NELFA
|
|
|
WT1
|
|
|
XPA
|
|
|
XPC
|
|
|
XRCC2
|
|
|
XRCC4
|
|
|
YWHAG
|
|
|
ZIC2
|
|
|
PCGF2
|
|
|
ZBTB16
|
|
|
ZNF148
|
|
|
RNF113A
|
|
|
TUBA1A
|
|
|
AIMP2
|
|
|
TUSC3
|
|
|
KAT6A
|
|
|
NUP214
|
30758658 |
|
PDHX
|
|
|
KMT2D
|
|
|
AAAS
|
|
|
HMGA2
|
|
|
AP3B2
|
|
|
DGCR6
|
|
|
ESS2
|
|
|
KDM5C
|
|
|
SMC1A
|
|
|
NAA10
|
|
|
LAGE3
|
|
|
ARID1A
|
|
|
TRRAP
|
28628100, 30424743 |
|
CDC45
|
|
|
H4C3
|
28920961 |
|
GNPAT
|
|
|
CUL4B
|
|
|
OGT
|
|
|
OFD1
|
|
|
PRSS12
|
|
|
PEX3
|
|
|
CNTNAP1
|
|
|
KCNAB2
|
|
|
IKBKG
|
|
|
AP3B1
|
|
|
CDK10
|
|
|
CASK
|
19165920 |
|
DCHS1
|
|
|
CRADD
|
|
|
PEX11B
|
|
|
SUCLA2
|
|
|
DPM1
|
|
|
SYNGAP1
|
|
|
SYNJ1
|
|
|
ST3GAL5
|
|
|
SGPL1
|
|
|
SLC5A6
|
29669219 |
|
AP1S2
|
|
|
FOXH1
|
|
|
KYNU
|
|
|
AP3D1
|
|
|
BAZ1B
|
|
|
SEMA5A
|
|
|
PIGQ
|
|
|
SMC3
|
|
|
AP4M1
|
|
|
ARHGEF2
|
|
|
BUB3
|
|
|
BMP15
|
|
|
XPR1
|
|
|
LARGE1
|
|
|
RAB11B
|
|
|
AIMP1
|
|
|
COPB2
|
|
|
TRIP13
|
|
|
ZNHIT3
|
28335020 |
|
SNAP29
|
|
|
EFTUD2
|
|
|
PLAA
|
|
|
PEX16
|
|
|
CRIPT
|
|
|
MED23
|
|
|
EIF2AK3
|
|
|
TBX4
|
|
|
TECR
|
|
|
MPDU1
|
|
|
GABBR2
|
|
|
GTF2IRD1
|
|
|
SEC24C
|
|
|
ZNF592
|
|
|
CEP135
|
|
|
CEP57
|
|
|
SEMA3E
|
|
|
HDAC4
|
|
|
ZEB2
|
|
|
TELO2
|
|
|
TECPR2
|
|
|
FIG4
|
|
|
NCAPD2
|
|
|
KIF14
|
24128419 |
|
MAFB
|
|
|
SLC12A6
|
|
|
DGCR2
|
|
|
FARSB
|
30014610 |
|
DNM1L
|
17460227 |
|
HUWE1
|
|
|
PQBP1
|
14634649, 15024694, 16740914 |
|
RAD50
|
|
|
BCAP31
|
|
|
ALG3
|
|
|
CD96
|
|
|
SF3B4
|
|
|
TRAIP
|
26595769 |
|
KATNB1
|
|
|
RXYLT1
|
|
|
WARS2
|
|
|
MICU1
|
|
|
TUBB3
|
|
|
TUBB4A
|
|
|
EMG1
|
|
|
MAD2L2
|
|
|
COG5
|
|
|
ZBTB18
|
|
|
SLC9A6
|
|
|
FBLN5
|
|
|
DEAF1
|
|
|
RNASEH2A
|
|
|
SLC35A1
|
|
|
POMT1
|
|
|
MTHFS
|
|
|
STAMBP
|
23542699 |
|
CTCF
|
|
|
FARS2
|
|
|
DLL3
|
|
|
AP4B1
|
|
|
YME1L1
|
|
|
PLK4
|
25344692 |
|
STAG2
|
25450604 |
|
RAI1
|
|
|
KIF1C
|
|
|
KDM5B
|
|
|
WDR4
|
|
|
CPLX1
|
|
|
MAPRE2
|
|
|
TLK2
|
|
|
LIAS
|
|
|
B4GAT1
|
|
|
CIT
|
|
|
AP4S1
|
|
|
MAN1B1
|
|
|
USP18
|
|
|
TREX1
|
|
|
PNKP
|
20118933 |
|
RNF13
|
|
|
PUF60
|
|
|
NTNG1
|
|
|
CNKSR2
|
|
|
TRAK1
|
|
|
DHX30
|
|
|
RAB3GAP1
|
|
|
RAB18
|
|
|
CEP152
|
|
|
WDFY3
|
|
|
CNOT1
|
|
|
ZNF292
|
29904178 |
|
TNIK
|
|
|
IQSEC2
|
|
|
SPART
|
|
|
POGZ
|
|
|
ANKLE2
|
|
|
DENND5A
|
|
|
NCAPD3
|
|
|
SATB2
|
|
|
RPGRIP1L
|
|
|
WASHC4
|
|
|
SZT2
|
|
|
ADNP
|
|
|
NCAPH
|
27737959 |
|
GRIP1
|
|
|
AP4E1
|
|
|
SLC35A3
|
|
|
BRD4
|
30302754 |
|
HAAO
|
|
|
SPIDR
|
|
|
KAT6B
|
|
|
ATP6V0A2
|
|
|
LEMD3
|
|
|
ORC6
|
|
|
FRRS1L
|
|
|
PISD
|
30858161 |
|
DSTYK
|
|
|
RAB3GAP2
|
|
|
TXN2
|
|
|
NIPBL
|
|
|
COG4
|
|
|
POLR1A
|
|
|
POC1A
|
|
|
RTTN
|
|
|
NDUFAF3
|
|
|
SAMHD1
|
|
|
SIN3A
|
27399968 |
|
PARS2
|
|
|
MMACHC
|
|
|
NECAP1
|
|
|
C2CD3
|
|
|
AUTS2
|
|
|
TCTN3
|
|
|
KIFBP
|
15883926 |
|
PHGDH
|
|
|
VPS33B
|
|
|
TINF2
|
|
|
TBL2
|
|
|
CYFIP2
|
|
|
B9D1
|
|
|
TUBGCP4
|
|
|
GPKOW
|
|
|
DLL1
|
|
|
DCPS
|
|
|
OSTM1
|
|
|
NDUFAF4
|
|
|
METTL5
|
31564433 |
|
UBE2T
|
|
|
ANKRD11
|
|
|
PSMC3IP
|
|
|
PYCR2
|
|
|
GMPPB
|
|
|
GMPPA
|
|
|
POMT2
|
|
|
SLC25A24
|
|
|
PSAT1
|
|
|
DONSON
|
28191891 |
|
GEMIN4
|
|
|
SLC45A1
|
|
|
NSDHL
|
|
|
CDON
|
|
|
TPRKB
|
|
|
GMNN
|
|
|
WDPCP
|
|
|
YARS2
|
|
|
TMX2
|
31270415 |
|
NDUFAF1
|
|
|
TRAPPC12
|
|
|
IER3IP1
|
|
|
RLIM
|
|
|
CRBN
|
|
|
NIN
|
|
|
PIGP
|
|
|
TMEM216
|
|
|
PCDH12
|
30459466, 29556033, 18477666, 27164683 |
|
TIMMDC1
|
|
|
RSRC1
|
|
|
MBTPS2
|
|
|
ACTL6B
|
|
|
UFC1
|
29868776 |
|
LARS1
|
|
|
TDP2
|
|
|
UFM1
|
29868776 |
|
LARP7
|
|
|
OTUD6B
|
|
|
SUFU
|
|
|
WWOX
|
|
|
RTEL1
|
|
|
INPP5K
|
|
|
TUBA8
|
|
|
BCL11A
|
|
|
FGFRL1
|
|
|
RIPK4
|
|
|
NANS
|
|
|
DGCR8
|
|
|
PRMT7
|
|
|
PUS7
|
30526862 |
|
NDUFB11
|
|
|
GTPBP2
|
|
|
TRIT1
|
|
|
CNNM2
|
|
|
DYM
|
|
|
NDE1
|
|
|
CC2D1A
|
|
|
QRICH1
|
|
|
BCOR
|
|
|
NSUN2
|
|
|
NCAPG2
|
|
|
MKS1
|
|
|
TMEM70
|
|
|
AGGF1
|
|
|
FANCL
|
|
|
RBM28
|
|
|
RFWD3
|
|
|
PNPO
|
|
|
CEP55
|
|
|
LINS1
|
|
|
SETD5
|
|
|
FANCI
|
|
|
TRAPPC14
|
|
|
SLC35C1
|
|
|
NOP10
|
|
|
DHTKD1
|
|
|
SLC30A10
|
|
|
FOXRED1
|
|
|
RNPC3
|
|
|
TRMT1
|
|
|
POMGNT1
|
|
|
CHD7
|
|
|
FLVCR2
|
|
|
OSGEP
|
|
|
NHP2
|
|
|
PEX26
|
|
|
PACS1
|
|
|
CCDC88A
|
30392057 |
|
HHAT
|
|
|
NUP133
|
|
|
CDK5RAP2
|
|
|
NGLY1
|
|
|
TBC1D23
|
|
|
MBD5
|
|
|
MCTP2
|
|
|
VPS11
|
|
|
CENPJ
|
16900296 |
|
TMEM126B
|
|
|
HDAC8
|
|
|
ZC4H2
|
26056227 |
|
KLHL7
|
|
|
SMG9
|
|
|
ALG1
|
|
|
FMN2
|
|
|
MRPS22
|
|
|
MFF
|
|
|
FAM20C
|
|
|
KIF15
|
|
|
CCDC47
|
|
|
KNL1
|
|
|
RPGRIP1
|
|
|
C12orf4
|
|
|
NUP107
|
|
|
VARS2
|
|
|
ZMIZ1
|
27479843, 26163108 |
|
THOC2
|
|
|
MCOLN1
|
|
|
MYORG
|
|
|
TBC1D24
|
|
|
SHROOM4
|
|
|
ARID1B
|
|
|
COG6
|
|
|
ARHGAP31
|
|
|
HACE1
|
|
|
CC2D2A
|
|
|
DOCK6
|
|
|
KCNT1
|
|
|
FANCM
|
|
|
EPG5
|
|
|
PRUNE1
|
|
|
KMT2C
|
|
|
SLC25A19
|
|
|
ALX4
|
|
|
TRAPPC11
|
|
|
VIPAS39
|
|
|
PIEZO2
|
|
|
ZNF335
|
|
|
PRDM16
|
|
|
XYLT1
|
|
|
IFIH1
|
|
|
NSD1
|
|
|
SIL1
|
|
|
ARV1
|
|
|
PORCN
|
|
|
PLEKHG2
|
|
|
ACD
|
|
|
NUP37
|
|
|
TSEN34
|
18711368 |
|
FTO
|
|
|
NDUFAF5
|
|
|
MBOAT7
|
|
|
FKRP
|
|
|
THOC6
|
|
|
TMEM231
|
|
|
RNASEH2B
|
|
|
EFL1
|
|
|
FAT4
|
|
|
MCPH1
|
|
|
TBL1XR1
|
|
|
PALB2
|
|
|
NARS2
|
|
|
SLC25A22
|
|
|
FBXO31
|
|
|
ALG9
|
|
|
EHMT1
|
|
|
NHEJ1
|
|
|
CSPP1
|
|
|
TCTN2
|
|
|
ALG13
|
|
|
UBA5
|
|
|
ZC3H14
|
|
|
DHDDS
|
|
|
PGAP1
|
|
|
FRAS1
|
|
|
EDC3
|
|
|
IFT74
|
|
|
CEP290
|
|
|
TTI2
|
|
|
FBXO11
|
|
|
NUBPL
|
|
|
CEP63
|
21983783, 26158450 |
|
PUS1
|
|
|
COASY
|
|
|
TSEN2
|
18711368 |
|
B9D2
|
|
|
ASXL3
|
|
|
LMAN2L
|
|
|
CLPB
|
|
|
TRIM8
|
|
|
CDT1
|
|
|
MED25
|
|
|
LAS1L
|
|
|
DDX59
|
|
|
PUS3
|
27055666 |
|
TRAPPC9
|
|
|
CDCA7
|
|
|
BRIP1
|
|
|
ATRIP
|
|
|
RNASEH2C
|
|
|
FAR1
|
|
|
POMK
|
|
|
PHF6
|
|
|
TMEM107
|
|
|
COG8
|
|
|
SLX4
|
|
|
COL25A1
|
|
|
NTNG2
|
31668703 |
|
HES7
|
|
|
MYO18B
|
|
|
GPT2
|
25758935 |
|
MFSD2A
|
26005868, 26005865 |
|
POMGNT2
|
|
|
LINGO1
|
|
|
PPP1R15B
|
|
|
WDR73
|
|
|
DISP1
|
|
|
PIGY
|
|
|
TUBGCP6
|
|
|
SELENOI
|
|
|
GFM1
|
|
|
UBE3B
|
|
|
RSPRY1
|
|
|
TMEM67
|
|
|
ATPAF2
|
|
|
NEK9
|
|
|
RFT1
|
|
|
NDUFAF2
|
|
|
GORAB
|
|
|
G6PC3
|
|
|
MGME1
|
|
|
ADAMTSL1
|
|
|
TRMT10A
|
|
|
PIGS
|
|
|
TP53RK
|
|
|
NACC1
|
|
|
TOE1
|
|
|
NUS1
|
|
|
METTL23
|
|
|
NDUFA11
|
|
|
GJB4
|
|
|
TBC1D20
|
|
|
GLYCTK
|
|
|
NADK2
|
|
|
RIPPLY2
|
|
|
MPLKIP
|
|
|
VPS37A
|
|
|
B3GLCT
|
|
|
MESP2
|
|
|
B3GALNT2
|
|
|
SIK1
|
|
|
CKAP2L
|
|
|
KCTD7
|
|
|
ESCO2
|
|
|
VPS13B
|
|
|
NAGS
|
|
|
SASS6
|
|
|
RNF168
|
|
|
SPATA5
|
|
|
ARX
|
|
|
ASXL1
|
|
|
ARID2
|
|
|
UBR1
|
|
|
LDHD
|
|
|
ACSF3
|
|
|
IBA57
|
|
|
FLCN
|
|
|
STT3B
|
|
|
TAPT1
|
|
|
TUBB
|
|
|
SAMD9L
|
|
|
JMJD1C
|
|
|
PHACTR1
|
|
|
BRAT1
|
|
|
STAC3
|
|
|
PTF1A
|
|
|
NALCN
|
|
|
ASPM
|
|
|
TSEN54
|
18711368 |
|
SLC13A5
|
|
|
WDR62
|
20890279, 20890278 |
|
UNC80
|
|
|
SUMF1
|
|
|
NSMCE2
|
|
|
NAT8L
|
|
|
CYP26C1
|
|
|
FREM2
|
|
|
TUBB2B
|
|
|
CTU2
|
|
|
HCN1
|
|
|
NDUFS7
|
|
|
ERCC6L2
|
|
|
LIPT2
|
|
|
MYMK
|
|
|
AGMO
|
31555905, 27000257 |
|
GTF2H5
|
|
|
MIR17HG
|
21892160 |
|
ALG11
|
|
|
CRPPA
|
|
|
RNU4ATAC
|
|
|
OCLN
|
|
| MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 |
C1855081 |
ANGPT2
|
|
|
CENPJ
|
|
|
MCPH1
|
20978018, 12046007, 15199523, 16211557 |
|
ASPM
|
|
|
MCPH1-AS1
|
|
| Autosomal Recessive Primary Microcephaly |
C3711387, 2512 |
CDK6
|
23918663 |
|
PHC1
|
|
|
STIL
|
|
|
TAF13
|
28257693 |
|
COPB2
|
29036432 |
|
CEP135
|
|
|
KIF14
|
28892560 |
|
CIT
|
27453578 |
|
CEP152
|
|
|
ANKLE2
|
25259927 |
|
NCAPD3
|
27737959 |
|
PYCR2
|
27860360 |
|
TRAPPC14
|
30715179 |
|
CDK5RAP2
|
|
|
CENPJ
|
|
|
KNL1
|
|
|
MCPH1
|
|
|
CEP63
|
|
|
MFSD2A
|
26005868, 26005865 |
|
SASS6
|
24951542 |
|
ASPM
|
|
|
WDR62
|
|
|
METTL5
|
|
| MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE |
C4015156 |
CDK6
|
23918663 |
| MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE |
C4015080 |
CENPE
|
24748105 |
| Microcephaly autosomal dominant |
C0220693 |
DPP6
|
23832105 |
| MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE |
C3809431 |
PHC1
|
25548773, 23418308, 25558065 |
|
CIT
|
27453578 |
| MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder) |
C2675187 |
STIL
|
19215732, 22989186, 25218063 |
| MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE |
C4540488 |
COPB2
|
29036432 |
| MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE |
C3553414 |
CEP135
|
22521416 |
| MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE |
C4693831 |
NCAPD2
|
27737959, 28097321 |
| MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE |
C4693572 |
KIF14
|
30388224, 28892560, 29343805 |
| MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE |
C1858516 |
CEP152
|
21131973 |
|
KNL1
|
22983954, 26626498 |
| MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE |
C3553886 |
CEP152
|
20598275 |
| MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE |
C4693834 |
NCAPD3
|
27737959 |
| MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE |
C4693843 |
NCAPH
|
27737959 |
| Microcephaly, Primary Autosomal Recessive, 3 |
C1858108 |
CDK5RAP2
|
28778786, 15793586, 27761245 |
| Microcephaly, Primary Autosomal Recessive, 6 |
C1842109 |
CENPJ
|
15793586, 16900296, 22020124, 20522431 |
| MICROCEPHALY, AMISH TYPE (disorder) |
C1846648 |
SLC25A19
|
19798730, 12185364, 17035501, 27604308 |
| MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE |
C3554499 |
ZNF335
|
23178126, 28327206 |
| MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE |
C4748555 |
NUP37
|
30179222 |
| MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE |
C4225310 |
MFSD2A
|
26005868, 26005865, 12046007 |
| MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE |
C4225338 |
SASS6
|
24951542 |
| Microcephaly, Primary Autosomal Recessive, 5 |
C1837501 |
ASPM
|
12355089, 29706646, 19770472 |
| MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder) |
C1858535 |
WDR62
|
20890278, 20890279, 21496009, 20729831, 28377545 |
| Microcephaly, Primary Autosomal Recessive, 2 |
C3501830 |
WDR62
|
|
| MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT |
C4479608 |
WDFY3
|
28191889, 27008544 |
| MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE |
C4310723 |
CIT
|
27503289, 27453578, 27453579, 27519304 |
| MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE |
C4225249 |
ANKLE2
|
25259927 |
| Primary microcephaly |
C0431350 |
CTNNB1
|
26968164 |
|
DPP6
|
23832105 |
|
PHC1
|
25548773 |
|
RBBP8
|
|
|
STIL
|
25218063 |
|
CEP135
|
|
|
TUBGCP3
|
|
|
PLK4
|
25344692 |
|
CIT
|
|
|
PNKP
|
|
|
CEP152
|
|
|
POC1A
|
26791357 |
|
RTTN
|
22939636 |
|
INO80
|
|
|
NDE1
|
21529752 |
|
CDK5RAP2
|
|
|
CENPJ
|
16900296 |
|
KNL1
|
22983954 |
|
MCPH1
|
|
|
CEP63
|
26158450 |
|
TUBGCP6
|
22279524 |
|
TRMT10A
|
26535115 |
|
TUBA3E
|
|
|
TSEN15
|
|
|
ASPM
|
|
|
WDR62
|
|
|
OCLN
|
|
| Autosomal dominant primary microcephaly |
2514 |
DPP6
|
|
| Secondary microcephaly |
C0431352 |
DYRK1A
|
|
|
BPTF
|
28942966 |
|
FOXG1
|
|
|
KCNQ1
|
|
|
MECP2
|
|
|
MTM1
|
|
|
PEX6
|
|
|
HUWE1
|
|
|
SLC9A6
|
|
|
RARS2
|
|
|
NACC1
|
|
