Developmental delay

Disease Term Disease ID Gene Symbol References
Global developmental delay C0557874 AARS1
ABAT 27903293
ABCB7
ACADM
ACADS
ACADSB
ACAT2
ACO2
ACOX1
ACTA1
ACTB
ACTG1
ACTL6A 28649782
ACY1
ADAR
ADD3
ADK
ADSL
AP1B1 31630791
AGTR2
AHCY
AKT1
AMPD2
ANK1
NUDT2 30059600
APP
AQP2
ABCC6
ARG1
ARL3
STS
ARSL
ARVCF
ASAH1
ASL
ASPA
ASS1
RERE
ATP1A1
ATP1A3
ATP2B3
ALDH7A1
ATP5F1D
ATP6V1A
ATP6V1E1
ATP7A
ATRX
KIF1A
AUH
AVPR2
BBS1
BBS2
BCR
BCS1L
BMP2
BMP4
BRCA1
BRAF 16474404, 18042262, 19206169, 16439621
BRCA2 23628597, 16141007, 20587410, 24389050, 18855126, 18042939, 19188187
BTD
BUB1
BUB1B
CA2
CA8
CACNA1A
CACNA1B 30982612, 25296916
CACNA1C
CACNA1D
CACNA1E 30343943
SLC25A20
CAD
CAMK2A 29100089
CAMK2B 29100089
CAMK2G
CAPN3
CBL
CBS
CCND2
CDC6
CDC42
CDH2 17222817
CDH11
CDK5
CDK6
CDK8 30905399
CHD1
CHD2
CHD3 29463886
CHN1
LYST
CHRNA7
AP2M1 31104773
AP1S1
CLCN4
CLIC2
TPP1
CLTC
COL3A1
COL4A1 17938367
COL4A2
COL6A1
COL6A3
COMT
COX6B1
COX7B
COX8A
COX10
COX15
CPS1
CREBBP
CRKL
CRX
CSNK2A1
CSTB
NKX2-5
CTBP1
CTNNA2 30013181
CTNNB1
CUX1
CYP27A1
DAG1
DCC
DDC 19172410
DDOST
DDX3X
DDX6 31422817
DDX11
DHCR7
DHCR24
DHFR
DHPS 21850436
CYB5R3
DIAPH1 26463574
DKC1
DLAT
DLD
DLG3
DMD
SARDH
DNM1
DNA2
DYNC1H1
DYNC1I2
DNMT3B
DOCK3
DPAGT1
DPH1
DPYD
ATN1 30827498
DVL1
DVL3
DYRK1A 25944381
ECHS1 26938784
EDN1
EDNRB
PHC1
EEF1A2 26795593
EFNB1
EGF
CELSR2
MEGF8
EIF2S3
EML1
EP300
EPRS1
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
EXT2
EXTL3
EYA1
EZH2
FANCA
FANCC
FANCD2
FANCE
ACSL4
BPTF 28942966
FANCB
FANCF
FANCG
FBN1
FKTN
GPC4
FGF12
FGFR1
FGFR3
FGFR2
FH
FOXG1
FOXE3
FOXE1
FLG
FLI1
FLII
FLNA
FLNB
FMR1
FRA16E
MTOR
FUCA1
FUT8
FZD2
GABRA1
GABRA2 678219
GABRA5 31056671
GABRB1
GABRB2
GABRB3
GABRD
GABRG2
GAD1
GALC
GALE
GAMT
LRRC32
GATA4
GATA6
GATM
GBA
GCDH
GCH1
GCK
GDI1
GFER
B4GALT1
GJB2
GK
GPC3
GCLC
GLI2
GLI3
GLRA1 1352015, 27843043
GLS
GLUD1
GM2A
GNAI3
GNAO1
GNB1 28087732, 27108799
GOT2 31422819
GP1BA
GP1BB
GRIA3
GRIA4
GRID2
GRIK2
GRIN1
GRIN2B
GRIN2D
GRM1
GRM7
GTF2E2
BRF1
GYS2
GUCY2D
H1-4
H3-3A
HSD17B10
HADHA
HADHB
HCCS
HCFC1
HTT
HELLS
HIVEP2
HK1 28135719
MNX1
HLCS
HMGB3
HNF4A
HNMT
HNRNPH2
HNRNPK
HNRNPU
HPRT1
HRAS 16170316
HSD17B4
HSPD1
NDST1
IARS1
IDH2
IDUA
IGF1R 23045302
IGF2
IMPDH1
INS
INSR
PDX1
IPW
IREB2
ITGA2
ITGA2B
ITGB3
STT3A 23842455
ITPA
ITPR1
IVD
KARS1 28496994, 25330800
KCNA1
KCNA2
KCNB1 28252636, 29264397
KCNC3
KCNH1
KCNJ1
KCNJ10
KCNJ11
KCNJ13
KCNMA1
KCNQ1
KCNQ2
KCNQ3
KIF2A
KIF5B
KIF5C
KIF11
KIF22
KRAS 17875939, 20949621, 16474405
AFF3
LAMB2
LAMP2
LBR
LETM1
LHX1
LIG4
LIPA
LMNA
LMNB1
LRP2
LRP5
LSS 29016354
LTC4S
MAB21L1 30487245
SMAD4
MAG
MAN2B1
MARS1
MCM4
MDH2 27989324
MECP2
MEFV
MEIS2
MGAT2
MGP
MID1
MIPEP 27799064
KMT2A
MLLT1
ALDH6A1
MN1 15870292
MPV17
ATP6
MTHFR
ND1
ND2
ND3
MTR
MTRR
TRNN
TRNS1
MMUT
MVK
MYO5A
MYO5B
MYO7A
NAGA
NDN
NDUFA1
NDUFA2
NDUFA4
NDUFA6
NDUFA9
NDUFA10
NDUFB3
NDUFB8
NDUFB9
NDUFB10
NDUFS1
NDUFS2
NDUFS3
NDUFV1
NDUFS4
NDUFS6
NDUFS8
NDUFV2
NEK1
NEUROD2
NF1
NFIA
NFE2L2
NFIB 30388402
NFIX
NFKB2
NOTCH3
NPC1
NPHP1
NSF 31675180
NTRK1
NTRK2
ROR2
DDR2
OCRL
ODC1 30475435
OGDH
OPA1
OPHN1
SIX6
ORC1
ORC4
OTC
OTX2
P4HB
PAFAH1B1 11502906, 10441340, 14581661
PRDX1
PAH
PAK1
PAK3
PARN
PAX1
PAX6
PC
PCCA
PCCB
PCK1
PCNA
PCNT
CHMP1A
PCYT1A
PDE4D
PDE6D
PDHA1
SLC26A4
PEPD
PEX1
PEX6
PEX10
PEX12
PEX13
PEX14
PGK1
PGM3
PIGA
PIGC
PIK3C2A
PIK3CA
PIK3CD
PIK3R2
PLAGL1
PLCB4
PLEC
PLG
PLP1
PMM2
EXOSC9
POLA1
POLG
POLR2A 31353023
POU1F1
POU3F3 24550763
POU3F4
PPM1B
PPP1CB
PPP2CA 30595372
PPP2R1A
PPP2R5D
PPP3CA
PPT1
PRF1
PRKAR1A
PRKD1
MAPK1
MAP2K1
MAP2K2
PROC
PRODH
PROP1
PRPS1
RELN
PSAP
PSMD12
PSPH
PTCH1
PTEN
PTPN11 16638574, 16358218, 15520399, 15948193
PTS
PURA
PEX19
PEX2
PEX5
PYCR1
ALDH18A1
PCYT2 22764088, 31637422
QARS1
QDPR
RAC1 28886345
RAD21 30125677
RAD51
RAD51C
RAF1 17603482, 17603483
RALA 30500825
RARS1 24777941
RBBP8
DPF2
RET
ROBO1
RORA
RORB
RPE65
RPL10
RPL35A
RPS6KA3
RPS28
RREB1
CLIP1
RYR1
SARS1
MSMO1
SC5D
ATXN7
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SCN9A
SCO1
SDHA 28384794, 26269449, 23612575, 20484225
SDHB
SDHC
SDHD
SET
SGSH
SHH
ST3GAL3
STIL
SIM1
SIX1
SIX3
SKI
SKIV2L
SLC1A2
SLC1A4
SLC2A1 22976442, 27725288, 21555602, 25487684
SLC2A2
SLC3A1
SLC5A5
SLC6A1
SLC6A3 22279524
SLC6A8
SLC6A9
SLC12A1
SLC16A1
SLC18A2
SLC25A1
SMARCA2
SMARCA4
SMARCB1
SMARCC2 30580808
SMARCD1 30879640
SMARCE1
SMO
SMPD1
SNAP25
SNRPN
SON 27545676
SOS1
SOX2
SOX3
SOX4 30661772
SOX5
SOX10
SOX11
SPR
SPTBN2 28636205
SRP54
SSR4
STAT3
ELOVL4
STIM1
CDKL5
STX3
STXBP1 26865513
SUOX
ABCC8
SURF1
VAMP2 30929742
SYP
SYT1
TAF1 26350204
TAF2
TAF6
TAF13
TALDO1
TBX1
TBCD
TBCE
TBX2
TCF4 21671391, 24077912
HNF1B
TCF12
TCF20 30525188
TCOF1
TERC
TERT
TFAP2B
NR2F1
TG
TGFB1
NKX2-1
TSPAN7
TP53
TPI1
TPO
TRHR
TRIO
TRPS1
TSC1
TSC2
TSHR
TTPA
TUBB2A
TUBG1
TULP1
HIRA
TWIST1
UBE3A
UBTF 29300972, 28777933
UCP2
UFD1
SLC35A2 30817854
UGP2 31820119
UMPS
KDM6A
VARS1
EZR
VLDLR
VRK1
WFS1
WHCR
NSD2
NELFA
WNT5A
XRCC2
XRCC4
YY1
YWHAE
YWHAG
ZIC1
ZIC2
ZNF711
ZNF41
MKRN3
ZNF142 31036918
PCGF2 30343942
ZNF148
RNF113A
CSDE1 31579823
ALMS1
MOGS
TUBA1A
PAX8
BRPF1
ALDH5A1
ST7
TUSC3
KAT6A
NUP214
LHX3
PDHX
KMT2D
AAAS
HMGA2
AP3B2
MKKS
CHAF1B
LZTR1 29469822
SYN3
USP9X
RBM10
KDM5C 18697827, 26919706
SMC1A
NAA10
LAGE3
ARID1A
COLQ
TRRAP 30424743, 28628100
ACOX2
CDC45
PLA2G6
LTBP4
CUL4B
OGT
OFD1
PRSS12
PPM1D
PEX3
KCNAB2
IKBKG
CDK10
DEGS1 31186544
CASK
SLC25A12 26633542
CDK13 28807008
DCHS1
EED
GPAA1 24896178
CRADD
RAB11A 29100083
MATN4
TNFRSF11A
PEX11B
SUCLG1
SUCLA2
CCNK
DPM2
HESX1
SYNGAP1
SYNJ1
ST3GAL5
SGPL1
SLC5A6 27904971, 29669219
AP1S2
CACNA1G
HERC2
HERC1
KYNU
PLOD3
BRSK2 28135719, 30879638
ASH2L
PIGQ 31148362
SMC3
AIFM1
CTDP1
FIBP
AP4M1
BUB3
SLC33A1
LARGE1
LRAT
RAB11B
CACNA2D2 15331424
AIMP1
COPB2
ADGRG1
TRIP13
TRIP12
TRIP4
ZNHIT3
GTF3C3 30552426
SNAP29
EFTUD2
LONP1
PLAA
COG1
PEX16
MED23
MED17
EIF2AK3
ARHGEF6
ATG5
PIGL
PIGB 31256876
PMPCB
TECR
MPDU1
POLR1C
PREPL
NCOR1
SEC24C
TTC37
IQCB1
CEP135
PUM1 31859446
CEP57
RUBCN
ADAMTSL2
SEMA3E
CEP104
IFT140
FRMPD4 29267967
HDAC4
TMEM94 30526868
EIF4A3
PIEZO1
KIAA0586 26938784
PTDSS1
ZBTB24
KIAA0753
RUSC2
SEC24D
TELO2
TECPR2
FIG4
WASHC5
AP5Z1
ARNT2
IQSEC1 31607425
KIF14
MAFB
AMMECR1
MED12
SLC12A6
SCO2
AKT3
GNE
DNM1L
HUWE1
USH1C
PQBP1
CERT1
TSFM
MKRN3-AS1
LRPPRC
BCAP31
SLC25A13
SLC25A15
ALG3
CD96
COQ7
HNRNPR 26795593
GPHN
STUB1
STAG1
TRAIP
APC2 22573669
KATNB1
RXYLT1
WARS2
MICU1
TUBB3
TUBB4A 24785942
MAD2L2
PIBF1 26167768
ZBTB18 25529582
SLC9A6
SEC23B
CIB2
DEAF1 28213671, 26795593, 24668509, 26834045, 28940898
RNASEH2A
SLC35A1
ARFGEF2
NPC2
POMT1
MTHFS
CTCF
FARS2
GNB5
EBP
TBR1
AP4B1
YME1L1
PLK4
STAG2 25450604
RAI1
KIF1C
KDM5B
ZMYND11 25217958
WDR4
SDCCAG8
CPLX1
PDE10A
SRCAP
MAGED2
CLP1
MAPRE2
SPINK5
TLK2
VAX1
B4GAT1
MID2
CIT
POLR3A
KPTN
IL1RAPL1
CORO1A
WDR45
AP4S1 25552650
SUPT16H 106193
PLPBP
MRPL3
MAN1B1
TREX1
PNKP
B4GALT7
EXOSC8
RNF13 30595371
COG2
MRAS
PUF60
CHSY1
CNKSR2
FASTKD2
MORC2
WDR37 31327508
CEP164
TRAK1
DHX30
RAB3GAP1
RAB18
RPIA
NT5C2
MAST1
CEP152
CNOT1 31006513
KDM1A 26656649
ZNF292
MYT1L
TNIK
CLUAP1 28679688
EMC1
ZNF423
IQSEC2
SPART 28679690
NFASC
POGZ
KDM6B
ANKLE2
CIC
MAPK8IP3 28135719
PMPCA
RHOBTB2 26740508
EXOC6B 23422942, 25256811
PACS2 28867141
KATNIP
DDHD2
CAMTA1
AGTPBP1
FBXW11 31402090
NCAPD3
SATB2
CUX2
RPGRIP1L
WASHC4
NEDD4L
CLASP1
SZT2 24324832
SPECC1L
SIK3
MED13L
ADNP
DICER1
MLYCD
CRB1
AP4E1
GPR161
SLC35A3
ETHE1
TGDS
HAAO 28792876
MACF1
SUZ12 31724824
SLC39A14
KAT6B 26938784
ATP6V0A2
CDK20
PIGN
LEMD3
ORC6
FRRS1L
NPAP1
AIPL1
FTSJ1
RAB3GAP2
CIZ1
MTO1
TXN2
NIPBL
COG4
NDUFAF3
PTPN23
SAMHD1
SIN3A
SH2B1
PARS2
MMACHC
NECAP1
AAR2
C2CD3
TKFC 32004446
CNTNAP2
AUTS2
WIPI2
TCTN3
KIFBP
TRAF3IP1
INTS1 17544522
FBXL3
FBXL4 27182039
HIBCH
VPS33B
TINF2
SLC17A5
AGO1 29346770
RPS6KC1
NBEA 23153818
CYFIP2
NPHP3
B9D1
UQCRQ
ZBTB11
AFF4
INVS
TUBGCP4
AHDC1 24791903
NFU1
MMADHC
DIMT1
PGAP2
PCLO
DLL1 31353024
CCDC22
DCPS
OSTM1
SETD2
NDUFAF4
UBE2T
ANKRD11
PYCR2
GMPPB
GMPPA
ALG6
POMT2
PSAT1
DUOX2
GEMIN4
SLC45A1
NSDHL
CDON
TPRKB
ASCC1
EXOSC3
PAM16
GMNN
TMX2 31270415
NDUFA13
POLR1D
SEPSECS
TRNT1
ABHD5
MECR
NDUFAF1
RDH11
KMT5B
TRAPPC12 28777934
MRPS2
SBDS
IER3IP1
RLIM
CRBN
NIN
TACO1
PIGP 31139695
CCDC174
TBC1D7
TMEM216
PCDH12
TIMMDC1
KCNK9
PHF21A
RSRC1
WAC
SPG21
MBTPS2
ACTL6B 31134736, 30237576
HIKESHI
LARS1
TMEM138
LARP7
NBAS 27789416
LIPT1
PIGT
OTUD6B
PTRH2
MPC1
ZFR
SUFU
UPB1
WWOX
RTEL1
INPP5K
KDM3B 30929739
TUBA8
BCL11A
FGFRL1
GPR88
PRMT7
TMCO1
PUS7
NDUFB11
MAGEL2
LZTFL1
GTPBP2 25061210
P4HTM 30940925, 25078763
PDP1
TRIT1 24901367
CNNM2
AHI1
DYM
SAMD9
NDE1
CC2D1A
PIGG
BCOR
NSUN2
NCAPG2
MKS1
TMEM70
RMND1
PHIP
OXR1
SOBP
FANCL
WRAP53
RFWD3
PNPO 15772097
LINS1
SETD5
ATAD3A 27640307
FANCI
ELP2
ASXL2
TRAPPC14
VPS53 2920088
CWF19L1
SLC35C1
NOP10
DHTKD1
FOXRED1
TASP1
TRMT1 28784718
POMGNT1
CHD7
FLVCR2
OSGEP
PIGV
NHP2
PEX26
PACS1
FRMD4A
VAC14
IARS2
POLR3B
CCDC88A
TENM3
WDR11
NUP133
CDK5RAP2
NGLY1
TBC1D23
ERMARD
MCTP2
LMBRD1
SPATA7
VPS11
CENPJ
TMEM165
TMEM126B
HDAC8 26938784
ASH1L
KMT2E 31079897
ZC4H2
NDUFA12
KLHL7
SMG9 27018474
ALG1
KCNQ5
DNAJC12
INPP5E
TWNK
FMN2
MCCC1
MFF
FAM20C
CCDC47 30401460
COQ9
RARS2
HYMAI
KNL1
RPGRIP1
C12orf4
NUP107
GJC2
ZMIZ1 26163108, 27479843, 30639322
SELENON
MCOLN1
SNX14
KAT14
SCYL1
GATAD2B
TBC1D24
SLC12A5
SHROOM4
PRR12 29556724
ARID1B 26350204, 22426309
KIDINS220
COG6
ARHGAP31
HECW2
PCDH19
HACE1
CC2D2A
TAOK1 31230721
TRMT5
DOCK6
ZSWIM6
FANCM
FHIP2A 31353455
EPG5
WDR19
SPTBN4
NLRC4
ZNF462 14564155
KMT2C
MPP4
ELAC2
ALX4
TRAPPC11
BCORL1
VIPAS39
PIEZO2
FAM111A
ZNF335 23178126
MRPS14
STEEP1
PRDM16
CDH23
MCCC2
SLC39A8
XYLT1
IFIH1
P3H1
IRF2BPL
NSD1
NXN
SIL1
ARV1
NMNAT1
PLEKHG2
BCL11B
ACD
TMEM237
VPS33A
UPF3B 22609145, 17704778, 19238151
RSRC2
PCDH15
CPLANE1
MRPS34
COLEC11
FTO
ALG12
NDUFAF5
CCDC28B
MBOAT7
FKRP
GNPTAB
THOC6
NKAP 31587868
TMEM231
CARS2
CEP97
TCTN1
RNASEH2B
EFL1
FAT4
ROGDI
SRD5A3
MCPH1
USB1
COLGALT1
TBL1XR1
PALB2
NARS2
SLC25A22
SNIP1
FBXO31
ALG9
EHMT1
CAMKMT
CSPP1
TCTN2
ALG13 23934111
UBA5
ZC3H14
DHDDS
PANK2
TRPM3 31278393, 29156220
PGAP1
EDC3
NAA15
CTC1
CEP290
TTI2
FBXO11
ARMC9
TARS2
NUBPL
WDR26
CEP63
KLHL15
COASY
SLC19A3 26938784
ASXL3
LNPK 30032983
SLC2A10
LMAN2L
CLPB
TRIM8 23934111
SNX27 23524343
CDT1
ISCA1
MED25
LAS1L 25644381
PUS3 27055666
TMEM47
C19orf12
TRAPPC9
JAM3
ITCH
CDCA7
BRIP1
MAGT1
KAT8 31794431
RNASEH2C
KIAA1109
FAR1
POMK
TRAF7 25961944
UTP23 30125677
PHF6
UQCC2
TMEM107
CCDC115
COA8
GFM2
COG8
SLX4
NKX6-2
COL25A1
NTNG2 31668703
FAM126A
KDM2B
SLC9A7
COX4I2
GTPBP3
GPT2
PIGO
LMNB2
MFSD2A
POMGNT2
LINGO1
ATAD1
TMEM87B 27148590
WDR73
SERAC1
COX14
PIGY
USP45
ATCAY
SHANK3
ALG2
TUBGCP6
DOCK7
PNPT1 31752325
LHX4
UBE3B
HS6ST2
ERI1
LYRM7
SLC25A46
TMEM67
MTRFR
ATPAF2
ALKBH8 31079898
RFT1
NDUFAF2
MTSS2
STRADA
GORAB
TIMM50
MARS2
PGAP3
TBCK
ST7-AS2
PIGS
CEP41
TUBA3E
TP53RK
NACC1
CHST14
SLC46A1
C12orf57
CYP2U1
TOE1
NLRP3
SLC25A26
FOXP4
NUS1
COX20
RAB39B
TSEN15 25558065
TWIST2
BORCS5
ARL14EP
TRAPPC6B
ISCA2
TTC8
MTFMT
EARS2
METTL23
USH1G
WDR81
MICOS13
NDUFA11
B3GALT6
DMBX1
TBC1D20 26063829
PROKR2
PIGU 31353022
TANGO2 26805781
DIS3L2
GLYCTK
NADK2
DNAJC21
CD109
MPLKIP
VPS37A
NDUFAF6
HGSNAT
AMER1
PTCHD1
B3GLCT
RDH12
PWAR1
B3GALNT2
SIK1
CKAP2L
CEP120
ESCO2
VPS13B
TMTC3
NAGS
TMEM92
LGI4 16341215
SASS6
RNF168
SPATA5
MMAA
LCA5
BMPER
GLIS3
ARX
ASXL1
POLR3H
SCAMP5 20071347
ARID2
FCSK 30503518
ACSF3
TET3
ARL13B
FLCN
STT3B 23842455
TUBB
HYLS1
JMJD1C
PHACTR1 28135719, 27457812
BRAT1
EBF3 28017372
SYT14
MFSD8
NALCN
ASPM
NPHP4
H19
CHAMP1
TSEN54
KANSL1
PIGW
SLC13A5
WDR62
UNC80
SUMF1
FAM149B1
MMAB
SNORD115-1
FLG-AS1
TMEM240
NAT8L
SLC6A19
NEXMIF
HEPHL1
FREM2
RD3
KCNT2
ZFP57
ZNF81
TUBB2B
HCN1
NDUFS7
NHLRC2
KIF7
SLC6A17
BOLA3
IYD
USP27X
GDF6
GTF2H5
DUOXA2
ALG11
SNORD118
D2HGDH
CRPPA
UQCC3
PWRN1
SNORD116-1
PET100
KLLN
RNU4ATAC
OCLN
NPHP3-ACAD11
SCN1A-AS1
SNHG14
Gross motor development delay C1837658 ADCY5
AMPD2
BIN1
ATP6V1A
CACNA1A
CAMK2A 29100089
CAMK2B 29100089
CFL2
CHRNA1
CHRNB1
CHRND
CHRNE
CLCN7
COL1A1
COL1A2
COL2A1
COL6A1
COL11A2
COL13A1
DLAT
DYNC1H1
DNM2
DYRK1A
EP300
FGF3
MTOR 27159400
GALE
GLS
GRIA3 29016847
HARS1
HOXA1
ITPR1
LRP4
LRP5
MECP2
KMT2A
TRNE
MUSK
MYF6
MYH7
NONO
NPHP1
OPHN1
PAK3
PHKA2
PHKG2
PLEC
PPP2R1A
PTEN
PURA
RAPSN
RYR1
SCN2A
SCN4A 15596759, 19065518
SLC6A3
SMPD1
STIM1
TAF1
TK2
TNNT1
TPO
TTN
UBE2A
USP7
LZTR1 29469822
SMC1A
NAA10
SUCLA2
BRSK2 30879638
TRIP11
CHST3
RUBCN
MFN2
KIF14
HUWE1
NPC2
CLP1
WDR45
ERLIN2
SYNE1
ETHE1
FLRT1
FTSJ1
COG4
CNTNAP2
FOXP1
FLVCR1
DSE
POMT2
MECR
OTUD6B
SETD5
TRMU
GJC2
SELENON
THAP11
KIDINS220
PIEZO2
IRF2BPL
NSD1
MTMR14
KLC2
FKRP
CENPT
SPG11 19194956
CLPB
SELENOI
ANTXR2
DNAJC19
ASXL1
AK9
RNU12
DOK7
KY
AGRN
TTN-AS1
Profound global developmental delay C3553450 ASNS
ATRX
CAMK2B 29100089
FDFT1 29909962
MTOR
GRIA3 29016847
GRIN2A
KCNQ2
MEFV
OPA1
PEX1
PEX6
PEX10
PEX12
PEX13
PEX14
PPP2R1A
PRPS1
PTCH1
PEX19
PEX2
PEX5
QARS1
PLA2G6
PEX3
PEX11B
ST3GAL5
PIGQ
PEX16
CRIPT
TELO2
FARS2
WDR4
LIAS
DENND5A
AGTPBP1
PARS2
SETBP1
FOXP1
PSAT1
BCL11A
NDE1
PEX26
PRUNE1
ZNF335
SLC39A8
PLEKHG2
UBA5
COG7
PGAP3
TBCK
PIGS
NACC1
ARX
UNC80
LIPT2
NPHP3-ACAD11
Developmental Delay, Epilepsy, and Neonatal Diabetes C1853564 KCNJ11 24150202, 23382304, 22498247, 24912436, 17652641, 22145471
ABCC8 22498247, 21109997
DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES C4693376 DHDDS 27343064, 29100083
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency 289307 ALDH6A1