Polymicrogyria

Disease Term Disease ID Gene Symbol References
Bilateral generalized polymicrogyria 208447 GRIN1
Polymicrogyria C0266464 ACTB
ACTG1
ARL3
ATP1A2
ATP6V1A
ATP6V1E1
CCND2
COL3A1
COL4A1
CPT2
DAG1
DDX3X
DHCR24
DYNC1H1
ATN1
EML1
ERCC1
FKTN
FH
MTOR 27159400
GNB1
GRIK2
HNMT
HSD17B4
NDST1
KIF5C
MECP2
MN1 15870292
NPHP1
PAX6
PDHA1
PEX1
PEX6
PEX10
PEX12
PEX13
PEX14
PIGC
PIK3CA
PIK3R2
PI4KA
PTEN
PEX19
PEX2
PEX5
RAC1
CLIP1
SARS1
SCN1A
SCN3A
ST3GAL3
SON
TUFM
EZR
WT1
TUBA1A
TUSC3
LAGE3
TRRAP
EOMES
PRSS12
PEX3
CRADD
PEX11B
LARGE1
AIMP1
ADGRG1
ZNHIT3
SNAP29
RECQL4
PEX16
MED23
TECR
CEP104
KIAA0586
FIG4
AKT3
GPHN
SF3B4
KATNB1
LAMC3
RXYLT1
WARS2
TUBB3
PIBF1
POMT1
KDM5B
B4GAT1
POLR3A
MAN1B1
USP18
RAB18
TNIK
KATNIP
RPGRIP1L
WASHC4
ATP6V0A2
FRRS1L
RAB3GAP2
RTTN
C2CD3
KIFBP
PHGDH
B9D1
DISC1
DCPS
GPSM2
GMPPB
POMT2
PSAT1
SLC45A1
NSDHL
CRBN
RSRC1
TUBA8
AHI1
CC2D1A
NSUN2
MKS1
LINS1
POMGNT1 26938784
PEX26
CCDC88A
ERMARD
INPP5E
FMN2
C12orf4
TBC1D24
ARHGAP31
TMEM237
CPLANE1
MBOAT7
FKRP
TCTN1
SRD5A3
FBXO31
EHMT1
CSPP1
TCTN2
ZC3H14
PGAP1
EDC3
ARMC9
KLHL15
COL18A1
LMAN2L
MED25
TRAPPC9
POMK
POMGNT2
TMEM67
CEP41
TP53RK
BORCS5
METTL23
B3GALNT2
CEP120
TMTC3
BMPER
IBA57
ARL13B
HYLS1
WDR62
TUBB2B
CRPPA
OCLN
SCN1A-AS1
Polymicrogyria due to TUBB2B mutation 300573 TUBB2B
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL C1847352 ADGRG1 22238662, 15044805, 21349848, 24949629, 21723461, 16240336
POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE C3810405 ADGRG1
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL C4013648 FIG4 24598713
Unilateral polymicrogyria C4024960 TUBB2B