Linear Skin Defects With Multiple Congenital Anomalies 2; Lsdmca2

BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB, UQCRC2, FBXL4, GFM1, MRPS16, ELAC2, MRPS7, MRPS22, MRPS23, GTPBP3, PUS1, LRPPRC, NDUFAF5, APTX, SFXN4, MGME1, SLC19A3, NFU1, LIAS, MRPL44, COQ8A, MFN2, LARS2, NDUFA13, RRM2B, TPK1, SARS2, PDSS1, COA6, RNASEH1, ATPAF2, NDUFAF1, COQ8B, MTO1, COQ4, ISCA2, COQ6, NUBPL, TRIT1, NDUFA11, NDUFB11, APOPT1, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, UQCC2, PDHX, LYRM4, RARS2, ACAD9, VARS2, AGK, COQ7, COX10, COX15, COX6A1, COX6B1, COX7B, COX8A, PDSS2, TRMT5, PNPT1, ETHE1, NDUFA12, YARS2, TACO1, BOLA3, FLAD1, COA3, MARS2, COQ2, COQ9, TRMU, MTPAP, DARS2, CARS2, COA7, CYC1, TTC19, TRMT10C, TMEM70, NSUN3, NARS2, C12orf65, FOXRED1, COX20, IBA57, LYRM7, NDUFAF2, COX14, DGUOK, NDUFAF6, COQ5, DLAT, DLD, FASTKD2, DNA2, EARS2, LIPT1, UQCRQ, MTFMT, GFM2, IARS2, ISCU, NDUFAF3, PARS2, TARS2, TMEM126B, TYMP, AFG3L2, ECHS1, COA5, SDHAF1, UQCC3, ETFA, ETFB, ETFDH, PET100, GARS, GFER, HADHA, HADHB, HARS2, HIBCH, KARS, MPV17, NDUFA1, NDUFA10, NDUFA2, NDUFA4, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, OPA1, OPA3, ATP5F1A, ATP5F1E, AIFM1, PDHA1, PDHB, POLG, POLG2, PDP1

RMRP, BCS1L, MRPL3, SACS, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC6A8, BTD, ATL1, SPAST, SPG7, STAR, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, ACO2, TIMM8A, TK2, TSFM, TUFM, UNG, UQCRB, UQCRC2, WFS1, WWOX, YWHAE, GFM1, MRPS16, ELAC2, SLC25A20, HTRA2, SLC25A19, MRPS22, PINK1, PUS1, CHCHD10, LRPPRC, PANK2, NDUFAF5, SAMHD1, GDAP1, APTX, SFXN4, MGME1, COX4I2, SLC19A3, NFU1, PARK7, LIAS, KIF1B, MRPL44, MCEE, COQ8A, MFN2, LARS2, RRM2B, TPK1, SARS2, PDSS1, NAGS, SPART, ATPAF2, NDUFAF1, MMAA, COQ8B, MTO1, MMAB, DDHD1, SLC25A22, CYCS, GLRX5, COQ6, NUBPL, NDUFA11, L2HGDH, CLPP, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, PDHX, LYRM4, RARS2, ACAD9, DIABLO, MPC1, AGK, COX10, COX15, COX6B1, COX7B, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, CRAT, NDUFA12, CISD2, YARS2, TACO1, BOLA3, DMGDH, MARS2, HOGA1, MMADHC, COQ2, COQ9, TMEM126A, TRMU, MTPAP, DARS2, REEP1, CYC1, CEP89, TTC19, SDHAF2, CYP27A1, TMEM70, SLC25A38, C12orf65, FOXRED1, COX20, DBT, IBA57, DECR1, XPNPEP3, NDUFAF2, COX14, D2HGDH, DGUOK, NDUFAF6, DHODH, CYB5R3, DLAT, DLD, FASTKD2, DNA2, EARS2, UQCRQ, MTFMT, DNM1L, ISCU, NDUFAF3, COASY, DNAJC19, FDX2, PNPLA2, TYMP, AFG3L2, COA5, SDHAF1, ERCC6, ETFA, ETFB, ETFDH, FBP1, AK2, FH, FXN, ALAS2, PET100, ALDH4A1, GAMT, GARS, GATM, GCDH, GCK, GCSH, GFER, GK, GLDC, GLUD1, AMACR, AMT, HADH, ABCB7, HSD17B10, HADHA, HADHB, HARS2, HCCS, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HSPD1, IDH1, IDH2, IDH3B, IVD, KARS, KIF5A, MAOA, MCCC1, MCCC2, MLYCD, ALDH6A1, MPV17, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TL1, MT-TL2, MT-TS1, MT-TS2, MMUT, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OAT, OGDH, OPA1, OPA3, ATP5F1A, ATP5F1E, OTC, OXCT1, PRKN, PC, PCCA, PCCB, ACAD8, PCK2, AIFM1, PDHA1, PDHB, PDK3, ACADM, AUH, ACADS, ACADSB, PNKD, POLG, POLG2, ACADVL, PDP1, PPOX, ACAT1, SLC33A1, BCAT2, BCKDHA, BCKDHB

BMP4, SHH, SIX3, SIX6, SLC25A1, SNX3, SOX2, SOX3, ELP4, VAX1, ATOH7, RAB18, ZEB2, CASK, RAB3GAP1, RAB3GAP2, FKRP, MFRP, RAX, NAA10, POMT2, VSX2, B3GLCT, DCDC1, CHD7, BCOR, COL4A1, COX7B, CRX, TMEM98, CYP1B1, C12orf57, TENM3, STRA6, FKTN, ISPD, FOXC1, FOXC2, FOXE3, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6, HESX1, HMGB3, HMX1, LAMB2, LARGE1, LHX2, MAB21L2, NDP, OTX2, PAX2, PAX6, PITX2, PITX3, POMT1, RARB

RP2, RPGR, RPL10, RPS6KA3, RS1, SAT1, SH2D1A, SHOX, SLC16A2, SLC35A2, SLC6A14, SLC6A8, SLC9A6, KDM5C, SMPX, SMS, SOX3, SRY, BTK, CDKL5, STS, SYN1, SYP, TAF1, TAZ, SERPINA7, TBX22, TIMM8A, TSPAN7, MED12, UBA1, UBE2A, UBQLN2, KDM6A, WAS, XK, ZIC3, ZNF41, ZNF711, ZNF81, FTSJ1, HDAC8, NSDHL, CACNA1F, PCDH19, NLGN4X, NLGN3, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, ZNF674, PORCN, ARX, PHF6, ATP6AP2, TMLHE, ZDHHC9, NAA10, CHM, GPR143, CLCN5, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, COL4A5, VMA21, COX7B, TRAPPC2, CSF2RA, ZC4H2, RAB40AL, OFD1, MAMLD1, CYBB, AMER1, DCX, CCNQ, MAGT1, DKC1, WDR45, DLG3, SHROOM4, DMD, CHRDL1, SRPX2, ALG13, EBP, EDA, EFNB1, EMD, AGTR2, F8, F9, ACSL4, FANCB, FHL1, FLNA, AFF2, ALAS2, G6PD, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GRIA3, AMELX, ABCB7, HSD17B10, HCCS, HCFC1, HPRT1, IDS, IGBP1, AP1S2, XIAP, IGSF1, IKBKG, IL1RAPL1, IL2RG, ABCD1, ANOS1, AR, L1CAM, LAMP2, MAOA, ARHGEF6, MECP2, MID1, ARSE, MTM1, NDP, NHS, NR0B1, OCRL, OPHN1, ATP2B3, OTC, PAK3, ATP7A, AIFM1, PDHA1, ATRX, CFP, PGK1, PHKA1, PHKA2, PIGA, AVPR2, PLP1, POLA1, POU3F4, PQBP1, PRPS1, RBM10

BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TFAP2A, ZIC2, PXDN, RAB3GAP1, ADAMTS18, MFRP, RAX, NAA10, GRIP1, FRAS1, VSX2, SMOC1, CHD7, BCOR, VPS13B, COL4A1, COX7B, FREM1, FREM2, CYP1B1, SMCHD1, TENM3, STRA6, SLC38A8, ERCC2, ERCC5, ERCC6, FOXC1, FOXE3, PRSS56, ALDH1A3, GJA1, ABCB6, HCCS, HESX1, HMX1, MAB21L2, MITF, NDP, OCRL, OTX2, PAX2, PAX6, PITX2, PQBP1, RARB, RBP4

SALL1, SALL2, BMP4, SHH, SIX6, SOX2, PXDN, MFRP, RAX, NAA10, VSX2, SMOC1, BCOR, COX7B, CRYBA4, C12orf57, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6, HCCS, MAB21L2, OTX2, PAX2, PAX6, RARB