Developmental Delay - Biallelic

Configuration file
Disease/Phenotype terms: cognition
Additional disease/phenotype
associated terms:
brain, nerve, nervous, neuronal, cerebellum, cerebral, hippocampus, hypothalamus, cortex, cortical, neuron, neurological, behavior, behaviour, developmental, synaptic


Seed genes
ABAT, ACAD9, ACADM, ACBD5, ACOX1, ACTL6B, ACY1, ADAR, ADSL, AGA, AGK, AGPS, AGTPBP1, AHI1, ALDH18A1, ALDH1A3, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG12, ALG3, ALG6, ALG8, ALMS1, ALS2, AMPD2, AMT, AP4E1, APTX, ARG1, ARL6, ARMC9, ARSA, ARSB, ASAH1, ASNS, ASPA, ASPM, ATIC, ATM, AUH, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BLM, BRF1, BTD, BUB1B, CA2, CA8, CAD, CBS, CC2D1A, CC2D2A, CCBE1, CCDC115, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP290, CEP41, CEP57, CKAP2L, CLN3, CLN5, CLN8, CLPB, CNNM2, CNTNAP2, COASY, COG1, COG4, COG7, COG8, COL18A1, COLEC11, COX10, COX15, COX6B1, CPS1, CRB2, CSF1R, CSPP1, CSTB, CTC1, CTDP1, CTSD, CUL7, CWC27, CYC1, CYP2U1, DAG1, DBT, DCHS1, DDC, DDHD1, DDHD2, DDOST, DEGS1, DHCR24, DHCR7, DHFR, DLD, DNMT3B, DOCK8, DOLK, DPAGT1, DPM1, DYM, ECHS1, ECM1, EIF2AK3, EIF2B4, EIF2B5, ELAC2, ELOVL4, EPG5, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC6L2, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, FAH, FAM126A, FAM20C, FAR1, FARS2, FAT4, FBXL4, FH, FKRP, FKTN, FLAD1, FLVCR1, FLVCR2, FOLR1, FOXRED1, FTCD, FUCA1, GALC, GALE, GALNS, GALT, GAMT, GAN, GATM, GBA2, GCDH, GCH1, GFM1, GJC2, GLB1, GLDC, GLUL, GM2A, GMPPA, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPSM2, GRIK2, GTF2H5, GTPBP2, GTPBP3, GUSB, HACE1, HADH, HADHA, HERC1, HEXA, HEXB, HGSNAT, HIBCH, HMGCL, HOXA1, HSD17B4, HYLS1, IDUA, IFT172, IGF1, INPP5E, ITPR1, IVD, KCNJ10, KCNJ11, KCTD7, KIAA0586, KIF7, L2HGDH, LAMA1, LAMA2, LAMC3, LARP7, LBR, LIG4, LRP2, LRPPRC, MAB21L2, MAN1B1, MAN2B1, MANBA, MASP1, MCCC1, MCCC2, MCOLN1, MCPH1, METTL23, MFF, MFSD8, MGAT2, MGP, MICU1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMP21, MOCS1, MOCS2, MPDU1, MPI, MPLKIP, MTHFR, MTR, MTRR, MYO18B, MYO5A, NAGA, NAGLU, NALCN, NANS, NAPB, NBAS, NDE1, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NFU1, NGLY1, NPC1, NPC2, NTNG2, NTRK1, NUBPL, NUDT2, OBSL1, OCLN, ORC1, ORC4, ORC6, P4HTM, PAH, PARN, PC, PCBD1, PCCA, PCCB, PCDH12, PCNT, PCYT2, PDSS2, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP2, PGAP3, PHGDH, PI4KA, PIBF1, PIGB, PIGL, PIGO, PIGT, PIGV, PLK4, PMM2, PMS2, PNKP, PNPLA6, POLG, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPT1, PRMT7, PRRT2, PRSS12, PSAP, PSPH, PTRH2, PTS, QDPR, RAB18, RAB23, RAB3GAP1, RAB3GAP2, RAPSN, RARB, RARS2, RAX, RELN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, ROR2, RPGRIP1L, RSRC1, RTEL1, RTN4IP1, RTTN, SAMHD1, SC5D, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SEMA3A, SEPSECS, SGSH, SIL1, SLC12A6, SLC13A5, SLC17A5, SLC19A3, SLC22A5, SLC25A1, SLC25A15, SLC25A20, SLC35C1, SLC39A8, SLC46A1, SLC4A4, SLC52A2, SLC52A3, SLC6A3, SLC6A5, SLX4, SMARCAL1, SMOC1, SMPD1, SNX14, SPG11, SPR, SRD5A3, ST3GAL5, STAMBP, STRA6, STRADA, SUCLG1, SUMF1, SURF1, TANGO2, TAT, TBC1D23, TBC1D24, TBCD, TBCE, TBCK, TCN2, TERT, TH, THOC6, TK2, TMCO1, TMEM165, TMEM237, TMEM67, TMEM70, TOP3A, TPP1, TPP2, TRAPPC9, TREX1, TRIM32, TRIM37, TRMT10A, TRNT1, TSEN54, TSHB, TTC19, TTC8, TUBA8, TUBGCP6, TUSC3, UBA5, UBE3B, UBR1, UFC1, UFM1, UMPS, UNC80, UROC1, VDR, VLDLR, VPS13B, VPS53, WDPCP, WDR62, WNT3, XPA, XRCC4, ZFYVE26

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