Comprehensive Movement Disorders Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
16004 AAAS 81479,81479 Order Options and Pricing
AARS1 81479,81479
AARS2 81479,81479
AASS 81479,81479
ABCA1 81479,81479
ABCA2 81479,81479
ABCA7 81479,81479
ABCB7 81479,81479
ABCC8 81407,81479
ABCD1 81405,81479
ABHD12 81479,81479
ABHD5 81479,81479
ACAT2 81479,81479
ACBD5 81479,81479
ACO2 81479,81479
ACOX1 81479,81479
ACOX2 81479,81479
ACP5 81479,81479
ACTB 81479,81479
ACTL6B 81479,81479
ADA2 81479,81479
ADAMTS13 81479,81479
ADAR 81479,81479
ADCY5 81479,81479
ADCY6 81479,81479
ADD3 81479,81479
ADGRG1 81479,81479
ADH1C 81479,81479
ADPRS 81479,81479
ADSL 81479,81479
AFG3L2 81479,81479
AGA 81479,81479
AGTPBP1 81479,81479
AHI1 81407,81479
AIFM1 81479,81479
AIMP1 81479,81479
ALAD 81479,81479
ALDH18A1 81479,81479
ALDH3A2 81479,81479
ALDH5A1 81479,81479
ALDH6A1 81479,81479
ALG6 81479,81479
ALS2 81479,81479
AMACR 81479,81479
AMPD2 81479,81479
ANG 81403,81479
ANK3 81479,81479
ANKLE2 81479,81479
ANO10 81479,81479
ANO3 81479,81479
ANOS1 81406,81479
AP1S2 81479,81479
AP3B2 81479,81479
AP3D1 81479,81479
AP4B1 81479,81479
AP4E1 81479,81479
AP4M1 81479,81479
AP4S1 81479,81479
AP5Z1 81479,81479
APOB 81479,81479
APP 81406,81479
APTX 81405,81479
ARCN1 81479,81479
ARFGEF2 81479,81479
ARG1 81479,81479
ARL13B 81479,81479
ARL6 81479,81479
ARL6IP1 81479,81479
ARMC9 81479,81479
ARNT2 81479,81479
ARSA 81405,81479
ARV1 81479,81479
ARX 81404,81403
ASAH1 81479,81479
ASL 81479,81479
ASNS 81479,81479
ASS1 81406,81479
ATCAY 81479,81479
ATG5 81479,81479
ATL1 81406,81479
ATM 81408,81479
ATP13A2 81479,81479
ATP1A2 81406,81479
ATP1A3 81479,81479
ATP2B3 81479,81479
ATP2B4 81479,81479
ATP5F1E 81479,81479
ATP6AP2 81479,81479
ATP7A 81479,81479
ATP7B 81479,81479
ATP8A2 81479,81479
ATPAF2 81479,81479
ATRX 81479,81479
ATXN7 81479,81479
AUH 81479,81479
B3GALT6 81479,81479
B4GALNT1 81479,81479
B4GAT1 81479,81479
B9D1 81479,81479
BBS1 81406,81479
BBS10 81404,81479
BBS12 81479,81479
BBS2 81406,81479
BBS4 81479,81479
BBS5 81479,81479
BBS7 81479,81479
BBS9 81479,81479
BCAP31 81479,81479
BCKDHA 81405,81479
BCKDHB 81406,81479
BCL11B 81479,81479
BCOR 81479,81479
BCS1L 81405,81479
BICD2 81479,81479
BOLA3 81479,81479
BRAT1 81479,81479
BSCL2 81406,81479
BTD 81404,81479
C12orf4 81479,81479
C19orf12 81479,81479
CA8 81479,81479
CACNA1A 81185,81479
CACNA1B 81479,81479
CACNA1D 81479,81479
CACNA1G 81479,81479
CACNA2D2 81479,81479
CACNB4 81479,81479
CAMTA1 81479,81479
CAPN1 81479,81479
CARS2 81479,81479
CASK 81479,81479
CAV1 81479,81479
CC2D2A 81479,81479
CCDC28B 81479,81479
CCDC88C 81479,81479
CCT5 81479,81479
CDKL5 81406,81405
CEP104 81479,81479
CEP120 81479,81479
CEP152 81479,81479
CEP290 81408,81479
CEP41 81479,81479
CFH 81479,81479
CHAMP1 81479,81479
CHCHD10 81479,81479
CHMP1A 81479,81479
CHMP2B 81479,81479
CHP1 81479,81479
CIT 81479,81479
CIZ1 81479,81479
CKAP2L 81479,81479
CLCN2 81479,81479
CLIC2 81479,81479
CLN3 81479,81479
CLN5 81479,81479
CLN6 81479,81479
CLN8 81479,81479
CLP1 81479,81479
CLPB 81479,81479
CLPP 81479,81479
CLTC 81479,81479
CNTN2 81479,81479
CNTNAP1 81479,81479
CNTNAP2 81406,81479
COA3 81479,81479
COA7 81479,81479
COA8 81479,81479
COASY 81479,81479
COG2 81479,81479
COG4 81479,81479
COG5 81479,81479
COL18A1 81479,81479
COL4A1 81408,81479
COL4A2 81479,81479
COL6A3 81407,81479
COQ2 81479,81479
COQ4 81479,81479
COQ5 81479,81479
COQ6 81479,81479
COQ7 81479,81479
COQ8A 81479,81479
COQ9 81479,81479
COX10 81405,81479
COX14 81479,81479
COX15 81405,81479
COX20 81479,81479
COX6B1 81404,81479
COX8A 81479,81479
CP 81479,81479
CPLANE1 81479,81479
CPS1 81479,81479
CPT1C 81479,81479
CREBBP 81407,81406
CRLF1 81479,81479
CRPPA 81405,81479
CSF1R 81479,81479
CSPP1 81479,81479
CSTB 81189,81479
CTBP1 81479,81479
CTC1 81479,81479
CTDP1 81479,81479
CTNNB1 81479,81479
CTSD 81479,81479
CTSF 81479,81479
CUL4B 81479,81479
CWF19L1 81479,81479
CYB5R3 81479,81479
CYC1 81479,81479
CYP27A1 81479,81479
CYP2U1 81479,81479
CYP7B1 81479,81479
DAB1 81479,81479
DAO 81479,81479
DARS1 81479,81479
DARS2 81479,81479
DBT 81406,81405
DCAF17 81479,81479
DCC 81479,81479
DCPS 81479,81479
DCTN1 81479,81479
DCX 81405,81479
DDC 81479,81479
DDHD1 81479,81479
DDHD2 81479,81479
DDX3X 81479,81479
DEAF1 81479,81479
DHCR24 81479,81479
DHFR 81479,81479
DHPS 81479,81479
DKC1 81479,81479
DLAT 81406,81479
DLD 81406,81479
DMXL2 81479,81479
DNA2 81479,81479
DNAJB2 81479,81479
DNAJC12 81479,81479
DNAJC13 81479,81479
DNAJC19 81479,81479
DNAJC3 81479,81479
DNAJC5 81479,81479
DNAJC6 81479,81479
DNM1L 81479,81479
DNM2 81479,81479
DNMT1 81479,81479
DOCK3 81479,81479
DOCK8 81479,81479
DPM1 81479,81479
DPYD 81479,81479
DPYS 81479,81479
DRD3 81479,81479
DRD5 81479,81479
DYNC1H1 81479,81479
DYRK1A 81479,81479
EARS2 81479,81479
EBF3 81479,81479
ECHS1 81479,81479
EEF2 81479,81479
EGR2 81404,81479
EIF2B1 81479,81479
EIF2B2 81405,81479
EIF2B3 81406,81479
EIF2B4 81406,81479
EIF2B5 81406,81479
EIF4G1 81479,81479
ELOVL1 81479,81479
ELOVL4 81479,81479
ELOVL5 81479,81479
ELP2 81479,81479
EMC1 81479,81479
EML1 81479,81479
ENTPD1 81479,81479
EPM2A 81404,81479
ERAL1 81479,81479
ERBB4 81479,81479
ERCC1 81479,81479
ERCC2 81479,81479
ERCC3 81479,81479
ERCC4 81479,81479
ERCC5 81479,81479
ERCC6 81479,81479
ERCC8 81479,81479
ERLIN1 81479,81479
ERLIN2 81479,81479
ETHE1 81479,81479
EXOSC3 81479,81479
EXOSC8 81479,81479
EXOSC9 81479,81479
EXT2 81479,81479
EZH2 81236,81479
FA2H 81479,81479
FAR1 81479,81479
FARS2 81479,81479
FASTKD2 81406,81479
FAT2 81479,81479
FBXL4 81479,81479
FBXO7 81479,81479
FGD4 81479,81479
FGF12 81479,81479
FGF14 81479,81479
FGFR1 81405,81479
FIG4 81406,81479
FITM2 81479,81479
FKRP 81404,81479
FKTN 81405,81479
FLNA 81479,81479
FLNC 81479,81479
FLVCR1 81479,81479
FOLR1 81479,81479
FOXG1 81404,81479
FOXRED1 81479,81479
FRMD4A 81479,81479
FRRS1L 81479,81479
FTL 81479,81479
FUCA1 81479,81479
FUS 81406,81479
FXN 81479,81479
GABRB1 81479,81479
GABRB2 81479,81479
GABRB3 81479,81479
GAD1 81479,81479
GALC 81479,81479
GAMT 81479,81479
GAN 81479,81479
GATAD2B 81479,81479
GBA 81479,81479
GBA2 81479,81479
GBE1 81479,81479
GCDH 81406,81479
GCH1 81405,81479
GCLC 81479,81479
GDAP2 81479,81479
GEMIN4 81479,81479
GFAP 81405,81479
GFM1 81479,81479
GFM2 81479,81479
GIGYF2 81479,81479
GJA1 81479,81479
GJB1 81403,81479
GJC2 81479,81479
GLB1 81479,81479
GLRA1 81479,81479
GLRX5 81479,81479
GLS 81479,81479
GLUD2 81479,81479
GLYCTK 81479,81479
GM2A 81479,81479
GMPPA 81479,81479
GMPPB 81479,81479
GNAL 81479,81479
GNAO1 81479,81479
GOSR2 81479,81479
GPAA1 81479,81479
GPR88 81479,81479
GRIA3 81479,81479
GRID2 81479,81479
GRIK2 81479,81479
GRIN1 81479,81479
GRIN2B 81479,81479
GRIN2D 81479,81479
GRM1 81479,81479
GRN 81406,81479
GSS 81479,81479
HACE1 81479,81479
HARS1 81479,81479
HARS2 81479,81479
HCFC1 81479,81479
HCN1 81479,81479
HEPACAM 81479,81479
HERC1 81479,81479
HEXA 81479,81479
HEXB 81479,81479
HIBCH 81479,81479
HIKESHI 81479,81479
HK1 81479,81479
HMBS 81406,81479
HNRNPA1 81479,81479
HNRNPA2B1 81479,81479
HNRNPH2 81479,81479
HPCA 81479,81479
HPDL 81479,81479
HPRT1 81479,81479
HSD17B10 81479,81479
HSD17B4 81479,81479
HSPD1 81479,81479
HSPG2 81479,81479
HTRA1 81405,81479
HTRA2 81479,81479
IBA57 81479,81479
IFIH1 81479,81479
IFRD1 81479,81479
IFT140 81479,81479
IFT172 81479,81479
IFT27 81479,81479
INPP5E 81479,81479
INTS8 81479,81479
IRF2BPL 81479,81479
ISCA2 81479,81479
ITM2B 81479,81479
ITPR1 81479,81479
JAM3 81479,81479
KANK1 81479,81479
KARS1 81479,81479
KATNIP 81479,81479
KCNA1 81479,81479
KCNA2 81479,81479
KCNA4 81479,81479
KCNC1 81479,81479
KCNC3 81479,81479
KCND3 81479,81479
KCNJ10 81404,81479
KCNJ6 81479,81479
KCNMA1 81479,81479
KCNQ2 81406,81479
KCNT1 81479,81479
KCTD17 81479,81479
KCTD7 81479,81479
KDM5C 81407,81479
KIAA0586 81479,81479
KIDINS220 81479,81479
KIF1A 81479,81479
KIF1B 81479,81479
KIF1C 81479,81479
KIF2A 81479,81479
KIF5A 81479,81479
KIF5C 81479,81479
KIF7 81479,81479
KLC2 81479,81479
KMT2B 81479,81479
KY 81479,81479
L1CAM 81407,81479
L2HGDH 81479,81479
LAGE3 81479,81479
LAMA2 81408,81479
LAMB2 81407,81479
LARGE1 81479,81479
LIAS 81479,81479
LIPT1 81479,81479
LIPT2 81479,81479
LMNB1 81479,81479
LMNB2 81479,81479
LRP4 81479,81479
LRPPRC 81479,81479
LRRK2 81408,81479
LRSAM1 81479,81479
LYRM7 81479,81479
LYST 81479,81479
MAG 81479,81479
MAN2B1 81479,81479
MAPT 81406,81479
MARS1 81479,81479
MARS2 81479,81479
MAT1A 81479,81479
MATR3 81479,81479
MBD5 81479,81479
MCCC2 81406,81479
MCOLN1 81479,81479
MDH2 81479,81479
MECP2 81302,81304
MECR 81479,81479
MED13L 81479,81479
MED17 81479,81479
MED25 81479,81479
MFF 81479,81479
MFN2 81406,81479
MFSD2A 81479,81479
MFSD8 81479,81479
MGME1 81479,81479
MICU1 81479,81479
MIPEP 81479,81479
MKS1 81479,81479
MLC1 81479,81479
MMACHC 81404,81479
MMADHC 81479,81479
MME 81479,81479
MOCS1 81479,81479
MOCS2 81479,81479
MORC2 81479,81479
MPDU1 81479,81479
MPV17 81405,81404
MPZ 81405,81479
MRE11 81479,81479
MRPS22 81479,81479
MRPS34 81479,81479
MTO1 81479,81479
MTPAP 81479,81479
MTRFR 81479,81479
MTTP 81479,81479
MVK 81479,81479
MYBPC1 81479,81479
MYH14 81479,81479
MYO7A 81407,81479
NADK2 81479,81479
NAGA 81479,81479
NAGLU 81479,81479
NALCN 81479,81479
NANS 81479,81479
NAT8L 81479,81479
NAXE 81479,81479
NDE1 81479,81479
NDRG1 81479,81479
NDUFA1 81404,81479
NDUFA10 81479,81479
NDUFA11 81479,81479
NDUFA12 81479,81479
NDUFA13 81479,81479
NDUFA2 81479,81479
NDUFA4 81479,81479
NDUFA9 81479,81479
NDUFAF1 81479,81479
NDUFAF2 81404,81479
NDUFAF3 81479,81479
NDUFAF4 81479,81479
NDUFAF5 81479,81479
NDUFAF6 81479,81479
NDUFB3 81479,81479
NDUFB9 81479,81479
NDUFS1 81406,81479
NDUFS2 81479,81479
NDUFS3 81479,81479
NDUFS4 81404,81479
NDUFS6 81479,81479
NDUFS7 81405,81479
NDUFS8 81405,81479
NDUFV1 81405,81479
NDUFV2 81479,81479
NECAP1 81479,81479
NEFH 81479,81479
NEFL 81405,81479
NEU1 81479,81479
NEXMIF 81479,81479
NF1 81408,81479
NF2 81479,81479
NFASC 81479,81479
NGLY1 81479,81479
NHLRC1 81403,81479
NIPA1 81404,81479
NKX2-1 81479,81479
NKX6-2 81479,81479
NMNAT1 81479,81479
NOL3 81479,81479
NOS3 81479,81479
NOTCH3 81406,81479
NPC1 81406,81479
NPC2 81404,81479
NPHP1 81406,81405
NR4A2 81479,81479
NSUN2 81479,81479
NT5C2 81479,81479
NUBPL 81479,81479
NUP62 81479,81479
OCLN 81479,81479
OFD1 81479,81479
OPA1 81407,81406
OPA3 81479,81479
OPHN1 81479,81479
OPTN 81406,81479
OSGEP 81479,81479
OTC 81405,81479
PAFAH1B1 81406,81405
PANK2 81479,81479
PARK7 81479,81479
PARN 81479,81479
PARS2 81479,81479
PC 81406,81479
PCCA 81406,81405
PCCB 81406,81479
PCDH12 81479,81479
PCDH19 81405,81479
PCLO 81479,81479
PCNA 81479,81479
PDE10A 81479,81479
PDE6D 81479,81479
PDE8B 81479,81479
PDGFB 81479,81479
PDGFRB 81479,81479
PDHA1 81406,81405
PDHB 81405,81479
PDHX 81406,81479
PDP1 81479,81479
PDSS1 81479,81479
PDSS2 81479,81479
PDYN 81479,81479
PET100 81479,81479
PEX1 81479,81479
PEX10 81479,81479
PEX11B 81479,81479
PEX12 81479,81479
PEX13 81479,81479
PEX14 81479,81479
PEX16 81479,81479
PEX19 81479,81479
PEX2 81479,81479
PEX26 81479,81479
PEX3 81479,81479
PEX5 81479,81479
PEX6 81479,81479
PEX7 81479,81479
PFN1 81479,81479
PGAP1 81479,81479
PGK1 81479,81479
PGM3 81479,81479
PHGDH 81479,81479
PHKA1 81479,81479
PHYH 81479,81479
PIBF1 81479,81479
PIEZO2 81479,81479
PIGA 81479,81479
PIGG 81479,81479
PIGN 81479,81479
PIGQ 81479,81479
PIGS 81479,81479
PIK3R5 81479,81479
PINK1 81405,81479
PITRM1 81479,81479
PLA2G6 81479,81479
PLAA 81479,81479
PLCB1 81479,81479
PLD3 81479,81479
PLEKHG2 81479,81479
PLEKHG4 81479,81479
PLP1 81405,81404
PLXND1 81479,81479
PMM2 81479,81479
PMP22 81325,81324
PMPCA 81479,81479
PNKD 81406,81479
PNKP 81479,81479
PNP 81479,81479
PNPLA6 81479,81479
PNPLA8 81479,81479
PNPT1 81479,81479
PODXL 81479,81479
POLG 81406,81479
POLG2 81479,81479
POLR1C 81479,81479
POLR3A 81479,81479
POLR3B 81479,81479
POMGNT1 81406,81479
POMGNT2 81479,81479
POMK 81479,81479
POMT1 81406,81479
POMT2 81406,81479
PON1 81479,81479
PPP1R15B 81479,81479
PPP3CA 81479,81479
PPT1 81479,81479
PQBP1 81405,81404
PRDM8 81479,81479
PRF1 81479,81479
PRICKLE1 81479,81479
PRICKLE2 81479,81479
PRKCG 81406,81479
PRKN 81406,81479
PRKRA 81479,81479
PROK2 81479,81479
PROKR2 81479,81479
PRPH 81479,81479
PRPS1 81479,81479
PRRT2 81479,81479
PRX 81405,81479
PSAP 81479,81479
PSAT1 81479,81479
PSEN1 81405,81479
PSEN2 81406,81479
PSMB8 81479,81479
PTEN 81321,81323
PTF1A 81479,81479
PTPN23 81479,81479
PTRH2 81479,81479
PTRHD1 81479,81479
PTS 81479,81479
PUM1 81479,81479
PURA 81479,81479
PYCR2 81479,81479
PYROXD1 81479,81479
QARS1 81479,81479
QDPR 81479,81479
RAB18 81479,81479
RAB27A 81479,81479
RAB39B 81479,81479
RAB3GAP1 81479,81479
RAD50 81479,81479
RARS1 81479,81479
RARS2 81479,81479
REEP1 81405,81479
REEP2 81479,81479
RETREG1 81479,81479
RFT1 81479,81479
RHOBTB2 81479,81479
RLIM 81479,81479
RNASEH1 81479,81479
RNASEH2A 81479,81479
RNASEH2B 81479,81479
RNASEH2C 81479,81479
RNASET2 81479,81479
RNF113A 81479,81479
RNF125 81479,81479
RNF168 81479,81479
RNF170 81479,81479
RNF216 81479,81479
ROGDI 81479,81479
RORA 81479,81479
RPGRIP1L 81479,81479
RPIA 81479,81479
RPL10 81479,81479
RRM2B 81405,81479
RTN2 81479,81479
RTN4IP1 81479,81479
RTTN 81479,81479
RUBCN 81479,81479
SACS 81479,81479
SAMD9L 81479,81479
SAMHD1 81479,81479
SARS1 81479,81479
SCARB2 81479,81479
SCN1A 81407,81479
SCN1B 81404,81479
SCN2A 81479,81479
SCN8A 81479,81479
SCN9A 81479,81479
SCO1 81405,81479
SCO2 81404,81479
SCP2 81479,81479
SCYL1 81479,81479
SDHA 81479,81479
SDHAF1 81479,81479
SDHB 81405,81479
SDHD 81404,81479
SELENOI 81479,81479
SEPSECS 81479,81479
SERAC1 81479,81479
SETX 81406,81479
SFXN4 81479,81479
SGCE 81406,81405
SGPL1 81479,81479
SH3TC2 81406,81479
SHMT2 81479,81479
SIGMAR1 81479,81479
SIL1 81405,81479
SLC12A6 81479,81479
SLC13A5 81479,81479
SLC16A2 81405,81404
SLC17A5 81479,81479
SLC18A2 81479,81479
SLC19A2 81479,81479
SLC19A3 81479,81479
SLC1A3 81479,81479
SLC1A4 81479,81479
SLC20A2 81479,81479
SLC25A12 81479,81479
SLC25A15 81479,81479
SLC25A22 81479,81479
SLC25A4 81404,81479
SLC25A46 81479,81479
SLC2A1 81405,81479
SLC30A10 81479,81479
SLC30A9 81479,81479
SLC33A1 81479,81479
SLC39A14 81479,81479
SLC39A4 81479,81479
SLC44A1 81479,81479
SLC46A1 81479,81479
SLC52A2 81479,81479
SLC52A3 81479,81479
SLC6A1 81479,81479
SLC6A17 81479,81479
SLC6A19 81479,81479
SLC6A3 81479,81479
SLC6A8 81479,81479
SLC9A1 81479,81479
SLC9A6 81406,81479
SMAD4 81406,81405
SMC1A 81479,81479
SMG9 81479,81479
SMPD1 81479,81479
SNAP25 81479,81479
SNCA 81479,81479
SNX14 81479,81479
SOD1 81404,81479
SOX10 81479,81479
SOX2 81479,81479
SOX6 81479,81479
SPART 81479,81479
SPAST 81406,81405
SPG11 81407,81479
SPG21 81479,81479
SPG7 81406,81405
SPR 81479,81479
SPTAN1 81479,81479
SPTBN2 81479,81479
SPTBN4 81479,81479
SPTLC2 81479,81479
SQSTM1 81479,81479
STAMBP 81479,81479
STN1 81479,81479
STUB1 81479,81479
STXBP1 81406,81479
SUCLA2 81479,81479
SUFU 81479,81479
SUMF1 81479,81479
SUOX 81479,81479
SURF1 81405,81479
SVBP 81479,81479
SYNE1 81479,81479
SYNJ1 81479,81479
SYT14 81479,81479
SYT2 81479,81479
TACO1 81404,81479
TAF1 81479,81479
TAF2 81479,81479
TANGO2 81479,81479
TARDBP 81405,81479
TBC1D20 81479,81479
TBC1D23 81479,81479
TBC1D24 81479,81479
TBCD 81479,81479
TBCE 81479,81479
TBK1 81479,81479
TCF4 81406,81405
TCN2 81479,81479
TCTN1 81479,81479
TCTN2 81479,81479
TCTN3 81479,81479
TDP1 81479,81479
TDP2 81479,81479
TECPR2 81479,81479
TELO2 81479,81479
TENM4 81479,81479
TFG 81479,81479
TGM6 81479,81479
TH 81406,81479
THAP1 81404,81479
THG1L 81479,81479
THOC2 81479,81479
TIMM8A 81479,81479
TIMMDC1 81479,81479
TINF2 81479,81479
TMEM107 81479,81479
TMEM138 81479,81479
TMEM216 81479,81479
TMEM231 81479,81479
TMEM237 81479,81479
TMEM240 81479,81479
TMEM67 81407,81479
TMEM70 81479,81479
TMX2 81479,81479
TOR1A 81404,81479
TP53RK 81479,81479
TPI1 81479,81479
TPK1 81479,81479
TPM2 81479,81479
TPP1 81479,81479
TRAPPC11 81479,81479
TRAPPC12 81479,81479
TRAPPC4 81479,81479
TREM2 81479,81479
TREX1 81479,81479
TRIM32 81479,81479
TRNT1 81479,81479
TRPC3 81479,81479
TRPM7 81479,81479
TSEN15 81479,81479
TSEN2 81479,81479
TSEN54 81479,81479
TSFM 81479,81479
TTBK2 81479,81479
TTC19 81479,81479
TTC21B 81479,81479
TTPA 81404,81479
TTR 81404,81479
TUBA1A 81479,81479
TUBA4A 81479,81479
TUBB 81479,81479
TUBB3 81479,81479
TUBB4A 81479,81479
TUBG1 81479,81479
TWNK 81404,81479
TXN2 81479,81479
TYMP 81405,81479
TYROBP 81479,81479
UBA5 81479,81479
UBE3A 81406,81479
UBQLN2 81479,81479
UBR4 81479,81479
UBTF 81479,81479
UCHL1 81479,81479
UFC1 81479,81479
UNC80 81479,81479
UPB1 81479,81479
UQCC2 81479,81479
UQCC3 81479,81479
UQCRB 81479,81479
UQCRC2 81479,81479
UQCRFS1 81479,81479
UQCRQ 81479,81479
UROC1 81479,81479
USP18 81479,81479
VAC14 81479,81479
VAMP1 81479,81479
VAPB 81479,81479
VARS2 81479,81479
VCP 81479,81479
VLDLR 81479,81479
VPS11 81479,81479
VPS13A 81479,81479
VPS13C 81479,81479
VPS13D 81479,81479
VPS16 81479,81479
VPS35 81479,81479
VPS37A 81479,81479
VPS51 81479,81479
VPS53 81479,81479
VRK1 81479,81479
VWA3B 81479,81479
WARS2 81479,81479
WASHC5 81407,81479
WDR26 81479,81479
WDR45 81479,81479
WDR62 81407,81479
WDR73 81479,81479
WDR81 81479,81479
WFS1 81479,81479
WNK1 81479,81479
WWOX 81479,81479
XK 81479,81479
XPA 81479,81479
XPNPEP3 81479,81479
XPR1 81479,81479
XRCC1 81479,81479
XRCC4 81479,81479
YME1L1 81479,81479
ZC4H2 81479,81479
ZFYVE26 81479,81479
ZFYVE27 81479,81479
ZNF142 81479,81479
ZNF335 81479,81479
ZNF423 81479,81479
ZNHIT3 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
16004Genes x (938)81479 81185(x1), 81189(x1), 81236(x1), 81302(x1), 81304(x1), 81321(x1), 81323(x1), 81324(x1), 81325(x1), 81403(x4), 81404(x30), 81405(x50), 81406(x59), 81407(x14), 81408(x6), 81479(x1704) $1490 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

28 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

This panel includes genes in which sequencing variants and copy number variants have been associated with various types of pediatric- or adult-onset movement disorders. Movement disorders are a group of neurological disorders characterized by impaired or involuntary movements. Examples of movement disorders caused by genes in this panel include (but are not limited to) various types of ataxia, dystonia, parkinsonism, and tremor.

Genetic forms of ataxia are most often characterized by poor coordination of movement, a wide-based and unsteady gait, and poor coordination of the limbs and speech (also known as dysarthria; Bird. 2019. PubMed ID: 20301317). Autosomal dominant forms of ataxia (typically adult onset) are the most common form of hereditary ataxia with an estimated worldwide prevalence of 1-5 cases per 100,000 individuals. The most common forms are caused by repeat expansions; however, please note repeat expansion variants are not covered by this test. Autosomal recessive forms of ataxia (typically pediatric onset) have a prevalence of about 3 cases per 100,000 individuals (Bird. 2019. PubMed ID: 20301317).

Dystonia is characterized by excessive muscle contractions, resulting in abnormal, patterned movements such as twisting, repetitive motions, and abnormal postures. These patients may have tremors and experience exacerbation of dystonic posturing while attempting voluntary movements (Fuchs and Ozelius. 2013. PubMed ID: 24136457). In this way, it can be difficult to distinguish dystonia from ataxia in some patients. Dystonia is considered a common movement disorder amongst the general population: prevalence estimates for primary (isolated) dystonia have been reported to range from 10 to 37 cases per 100,000 individuals (Steeves et al. 2012. PubMed ID: 23114997).

Parkinsonism refers to a group of neurological abnormalities which includes tremor, bradykinesia (overall slowness of movement), and rigidity. These phenotypes are present in Parkinson’s disease (PD) as well as many other distinct disorders. PD is one of the most common movement disorders in the adult population, with an estimated incidence of 5 to 35 new cases per 100,000 individuals each year, and incidence significantly increases with age (Simon et al. 2020. PubMed ID: 31733690). Rare hereditary forms of PD and other disorders with parkinsonism can also occur in pediatric patients.

Essential tremor is one of the most common adult-onset neurologic disorders. Tremors are involuntary quivering movements that occur while performing voluntary movements, such as while moving a hand or arm (Clark and Louis. 2018. PubMed ID: 29325613).

Please note that abnormal movements that are only secondary to a primary phenotype (such as epilepsy, muscle weakness or muscle composition anomalies, or bone/joint abnormalities) are not considered movement disorders and therefore genes associated only with these phenotypes are not included in this test.

Genetic testing can aid in the differential diagnosis of movement disorders, which can be difficult to distinguish based on clinical features alone. One advantage of genetic testing is the possibility of being able to guide treatment decisions. Several types of movement disorders are caused by metabolic disturbances, and symptoms can be avoided or reduced by treatment with specific vitamin supplements or dietary modifications (Jinnah et al. 2018. PubMed ID: 28861905). Pharmaceutical intervention may be available for specific types of movement disorders as well. Diagnosis is also beneficial to patients with movement disorders so that they may identify support groups and organizations that provide support, additional resources, and a community of individuals and families with similar experiences.

Genetics

The diverse collection of genes represented in this panel represent autosomal recessive, autosomal dominant, and X-linked movement disorders known to be caused by sequence variants and copy number variants. Both familial and sporadic forms of the various movement disorders covered by this test have been linked to a genetic etiology. The genes included in this panel encode proteins with a variety or biological functions, mostly affecting neuron function within the central and peripheral nervous systems. See individual gene summaries for information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the genetic heterogeneity of the disorders tested in this panel, the clinical sensitivity of this specific grouping of genes is difficult to estimate. Diagnostic rates for next generation sequencing in pediatric cerebellar ataxia testing have been reported to range from 25% to over 80%. By contrast, the diagnostic rate using next generation sequencing for adult-onset cerebellar ataxias caused by non-repeat expansion disorders was reported to be less than 10% (Krygier and Mazurkiewicz-Bełdzińska. 2021. PubMed ID: 34224032). The genes in this panel cover a broader range of phenotypes and thus the clinical sensitivity may vary from previous reports. We are currently unaware of any reports in the literature in which this specific group of genes have been sequenced together.

Analytic sensitivity for movement disorders caused by sequence variants or copy number variants is expected to be high because these types of pathogenic variants are detectable by sequencing.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.1% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

The Comprehensive Movement Disorders Sequencing Panel is a phenotype-driven analysis and patient clinical information is required. This information can be submitted in the form of clinical notes or using our clinical phenotype checklist. For best results, we recommend including age of onset of symptoms, and if they are episodic, the frequency and duration of the episodes.

Reporting: Reports will consist of two different sections:

  • Variants in genes known to be associated with the provided phenotype
  • Variants in genes possibly associated with the provided phenotype

Please note that this test does not include testing for movement disorders caused by repeat expansions. Testing for individual repeat expansion disorders may be ordered in addition to the Comprehensive Movement Disorders Sequencing Panel at list price.

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

This test is recommended for children and adults with clinically abnormal movements including (but not limited to) ataxia, dystonia, tremor, and parkinsonism.

Genes

Official Gene Symbol OMIM ID
AAAS 605378
AARS1 601065
AARS2 612035
AASS 605113
ABCA1 600046
ABCA2 600047
ABCA7 605414
ABCB7 300135
ABCC8 600509
ABCD1 300371
ABHD12 613599
ABHD5 604780
ACAT2 100678
ACBD5 616618
ACO2 100850
ACOX1 609751
ACOX2 601641
ACP5 171640
ACTB 102630
ACTL6B 612458
ADA2 607575
ADAMTS13 604134
ADAR 146920
ADCY5 600293
ADCY6 600294
ADD3 601568
ADGRG1 604110
ADH1C 103730
ADPRS 610624
ADSL 608222
AFG3L2 604581
AGA 613228
AGTPBP1 606830
AHI1 608894
AIFM1 300169
AIMP1 603605
ALAD 125270
ALDH18A1 138250
ALDH3A2 609523
ALDH5A1 610045
ALDH6A1 603178
ALG6 604566
ALS2 606352
AMACR 604489
AMPD2 102771
ANG 105850
ANK3 600465
ANKLE2 616062
ANO10 613726
ANO3 610110
ANOS1 300836
AP1S2 300629
AP3B2 602166
AP3D1 607246
AP4B1 607245
AP4E1 607244
AP4M1 602296
AP4S1 607243
AP5Z1 613653
APOB 107730
APP 104760
APTX 606350
ARCN1 600820
ARFGEF2 605371
ARG1 608313
ARL13B 608922
ARL6 608845
ARL6IP1 607669
ARMC9 617612
ARNT2 606036
ARSA 607574
ARV1 611647
ARX 300382
ASAH1 613468
ASL 608310
ASNS 108370
ASS1 603470
ATCAY 608179
ATG5 604261
ATL1 606439
ATM 607585
ATP13A2 610513
ATP1A2 182340
ATP1A3 182350
ATP2B3 300014
ATP2B4 108732
ATP5F1E 606153
ATP6AP2 300556
ATP7A 300011
ATP7B 606882
ATP8A2 605870
ATPAF2 608918
ATRX 300032
ATXN7 607640
AUH 600529
B3GALT6 615291
B4GALNT1 601873
B4GAT1 605517
B9D1 614144
BBS1 209901
BBS10 610148
BBS12 610683
BBS2 606151
BBS4 600374
BBS5 603650
BBS7 607590
BBS9 607968
BCAP31 300398
BCKDHA 608348
BCKDHB 248611
BCL11B 606558
BCOR 300485
BCS1L 603647
BICD2 609797
BOLA3 613183
BRAT1 614506
BSCL2 606158
BTD 609019
C12orf4 616082
C19orf12 614297
CA8 114815
CACNA1A 601011
CACNA1B 601012
CACNA1D 114206
CACNA1G 604065
CACNA2D2 607082
CACNB4 601949
CAMTA1 611501
CAPN1 114220
CARS2 612800
CASK 300172
CAV1 601047
CC2D2A 612013
CCDC28B 610162
CCDC88C 611204
CCT5 610150
CDKL5 300203
CEP104 616690
CEP120 613446
CEP152 613529
CEP290 610142
CEP41 610523
CFH 134370
CHAMP1 616327
CHCHD10 615903
CHMP1A 164010
CHMP2B 609512
CHP1 606988
CIT 605629
CIZ1 611420
CKAP2L 616174
CLCN2 600570
CLIC2 300138
CLN3 607042
CLN5 608102
CLN6 606725
CLN8 607837
CLP1 608757
CLPB 616254
CLPP 601119
CLTC 118955
CNTN2 190197
CNTNAP1 602346
CNTNAP2 604569
COA3 614775
COA7 615623
COA8 616003
COASY 609855
COG2 606974
COG4 606976
COG5 606821
COL18A1 120328
COL4A1 120130
COL4A2 120090
COL6A3 120250
COQ2 609825
COQ4 612898
COQ5 616359
COQ6 614647
COQ7 601683
COQ8A 606980
COQ9 612837
COX10 602125
COX14 614478
COX15 603646
COX20 614698
COX6B1 124089
COX8A 123870
CP 117700
CPLANE1 614571
CPS1 608307
CPT1C 608846
CREBBP 600140
CRLF1 604237
CRPPA 614631
CSF1R 164770
CSPP1 611654
CSTB 601145
CTBP1 602618
CTC1 613129
CTDP1 604927
CTNNB1 116806
CTSD 116840
CTSF 603539
CUL4B 300304
CWF19L1 616120
CYB5R3 613213
CYC1 123980
CYP27A1 606530
CYP2U1 610670
CYP7B1 603711
DAB1 603448
DAO 124050
DARS1 603084
DARS2 610956
DBT 248610
DCAF17 612515
DCC 120470
DCPS 610534
DCTN1 601143
DCX 300121
DDC 107930
DDHD1 614603
DDHD2 615003
DDX3X 300160
DEAF1 602635
DHCR24 606418
DHFR 126060
DHPS 600944
DKC1 300126
DLAT 608770
DLD 238331
DMXL2 612186
DNA2 601810
DNAJB2 604139
DNAJC12 606060
DNAJC13 614334
DNAJC19 608977
DNAJC3 601184
DNAJC5 611203
DNAJC6 608375
DNM1L 603850
DNM2 602378
DNMT1 126375
DOCK3 603123
DOCK8 611432
DPM1 603503
DPYD 612779
DPYS 613326
DRD3 126451
DRD5 126453
DYNC1H1 600112
DYRK1A 600855
EARS2 612799
EBF3 607407
ECHS1 602292
EEF2 130610
EGR2 129010
EIF2B1 606686
EIF2B2 606454
EIF2B3 606273
EIF2B4 606687
EIF2B5 603945
EIF4G1 600495
ELOVL1 611813
ELOVL4 605512
ELOVL5 611805
ELP2 616054
EMC1 616846
EML1 602033
ENTPD1 601752
EPM2A 607566
ERAL1 607435
ERBB4 600543
ERCC1 126380
ERCC2 126340
ERCC3 133510
ERCC4 133520
ERCC5 133530
ERCC6 609413
ERCC8 609412
ERLIN1 611604
ERLIN2 611605
ETHE1 608451
EXOSC3 606489
EXOSC8 606019
EXOSC9 606180
EXT2 608210
EZH2 601573
FA2H 611026
FAR1 616107
FARS2 611592
FASTKD2 612322
FAT2 604269
FBXL4 605654
FBXO7 605648
FGD4 611104
FGF12 601513
FGF14 601515
FGFR1 136350
FIG4 609390
FITM2 612029
FKRP 606596
FKTN 607440
FLNA 300017
FLNC 102565
FLVCR1 609144
FOLR1 136430
FOXG1 164874
FOXRED1 613622
FRMD4A 616305
FRRS1L 604574
FTL 134790
FUCA1 612280
FUS 137070
FXN 606829
GABRB1 137190
GABRB2 600232
GABRB3 137192
GAD1 605363
GALC 606890
GAMT 601240
GAN 605379
GATAD2B 614998
GBA 606463
GBA2 609471
GBE1 607839
GCDH 608801
GCH1 600225
GCLC 606857
GDAP2 0
GEMIN4 606969
GFAP 137780
GFM1 606639
GFM2 606544
GIGYF2 612003
GJA1 121014
GJB1 304040
GJC2 608803
GLB1 611458
GLRA1 138491
GLRX5 609588
GLS 138280
GLUD2 300144
GLYCTK 610516
GM2A 613109
GMPPA 615495
GMPPB 615320
GNAL 139312
GNAO1 139311
GOSR2 604027
GPAA1 603048
GPR88 607468
GRIA3 305915
GRID2 602368
GRIK2 138244
GRIN1 138249
GRIN2B 138252
GRIN2D 602717
GRM1 604473
GRN 138945
GSS 601002
HACE1 610876
HARS1 142810
HARS2 600783
HCFC1 300019
HCN1 602780
HEPACAM 611642
HERC1 605109
HEXA 606869
HEXB 606873
HIBCH 610690
HIKESHI 614908
HK1 142600
HMBS 609806
HNRNPA1 164017
HNRNPA2B1 600124
HNRNPH2 300610
HPCA 142622
HPDL 0
HPRT1 308000
HSD17B10 300256
HSD17B4 601860
HSPD1 118190
HSPG2 142461
HTRA1 602194
HTRA2 606441
IBA57 615316
IFIH1 606951
IFRD1 603502
IFT140 614620
IFT172 607386
IFT27 615870
INPP5E 613037
INTS8 611351
IRF2BPL 611720
ISCA2 615317
ITM2B 603904
ITPR1 147265
JAM3 606871
KANK1 607704
KARS1 601421
KATNIP 616650
KCNA1 176260
KCNA2 176262
KCNA4 176266
KCNC1 176258
KCNC3 176264
KCND3 605411
KCNJ10 602208
KCNJ6 600877
KCNMA1 600150
KCNQ2 602235
KCNT1 608167
KCTD17 0
KCTD7 611725
KDM5C 314690
KIAA0586 610178
KIDINS220 615759
KIF1A 601255
KIF1B 605995
KIF1C 603060
KIF2A 602591
KIF5A 602821
KIF5C 604593
KIF7 611254
KLC2 611729
KMT2B 606834
KY 605739
L1CAM 308840
L2HGDH 609584
LAGE3 300060
LAMA2 156225
LAMB2 150325
LARGE1 603590
LIAS 607031
LIPT1 610284
LIPT2 617659
LMNB1 150340
LMNB2 150341
LRP4 604270
LRPPRC 607544
LRRK2 609007
LRSAM1 610933
LYRM7 615831
LYST 606897
MAG 159460
MAN2B1 609458
MAPT 157140
MARS1 156560
MARS2 609728
MAT1A 610550
MATR3 164015
MBD5 611472
MCCC2 609014
MCOLN1 605248
MDH2 154100
MECP2 300005
MECR 608205
MED13L 608771
MED17 603810
MED25 610197
MFF 614785
MFN2 608507
MFSD2A 614397
MFSD8 611124
MGME1 615076
MICU1 605084
MIPEP 602241
MKS1 609883
MLC1 605908
MMACHC 609831
MMADHC 611935
MME 120520
MOCS1 603707
MOCS2 603708
MORC2 616661
MPDU1 604041
MPV17 137960
MPZ 159440
MRE11 600814
MRPS22 605810
MRPS34 611994
MTO1 614667
MTPAP 613669
MTRFR 613541
MTTP 157147
MVK 251170
MYBPC1 160794
MYH14 608568
MYO7A 276903
NADK2 615787
NAGA 104170
NAGLU 609701
NALCN 611549
NANS 605202
NAT8L 610647
NAXE 608862
NDE1 609449
NDRG1 605262
NDUFA1 300078
NDUFA10 603835
NDUFA11 612638
NDUFA12 614530
NDUFA13 609435
NDUFA2 602137
NDUFA4 603833
NDUFA9 603834
NDUFAF1 606934
NDUFAF2 609653
NDUFAF3 612911
NDUFAF4 611776
NDUFAF5 612360
NDUFAF6 612392
NDUFB3 603839
NDUFB9 601445
NDUFS1 157655
NDUFS2 602985
NDUFS3 603846
NDUFS4 602694
NDUFS6 603848
NDUFS7 601825
NDUFS8 602141
NDUFV1 161015
NDUFV2 600532
NECAP1 611623
NEFH 162230
NEFL 162280
NEU1 608272
NEXMIF 300524
NF1 613113
NF2 607379
NFASC 609145
NGLY1 610661
NHLRC1 608072
NIPA1 608145
NKX2-1 600635
NKX6-2 605955
NMNAT1 608700
NOL3 605235
NOS3 163729
NOTCH3 600276
NPC1 607623
NPC2 601015
NPHP1 607100
NR4A2 601828
NSUN2 610916
NT5C2 600417
NUBPL 613621
NUP62 605815
OCLN 602876
OFD1 300170
OPA1 605290
OPA3 606580
OPHN1 300127
OPTN 602432
OSGEP 610107
OTC 300461
PAFAH1B1 601545
PANK2 606157
PARK7 602533
PARN 604212
PARS2 612036
PC 608786
PCCA 232000
PCCB 232050
PCDH12 605622
PCDH19 300460
PCLO 604918
PCNA 176740
PDE10A 610652
PDE6D 602676
PDE8B 603390
PDGFB 190040
PDGFRB 173410
PDHA1 300502
PDHB 179060
PDHX 608769
PDP1 605993
PDSS1 607429
PDSS2 610564
PDYN 131340
PET100 614770
PEX1 602136
PEX10 602859
PEX11B 603867
PEX12 601758
PEX13 601789
PEX14 601791
PEX16 603360
PEX19 600279
PEX2 170993
PEX26 608666
PEX3 603164
PEX5 600414
PEX6 601498
PEX7 601757
PFN1 176610
PGAP1 611655
PGK1 311800
PGM3 172100
PHGDH 606879
PHKA1 311870
PHYH 602026
PIBF1 607532
PIEZO2 613629
PIGA 311770
PIGG 616918
PIGN 606097
PIGQ 605754
PIGS 610271
PIK3R5 611317
PINK1 608309
PITRM1 0
PLA2G6 603604
PLAA 603873
PLCB1 607120
PLD3 615698
PLEKHG2 611893
PLEKHG4 609526
PLP1 300401
PLXND1 604282
PMM2 601785
PMP22 601097
PMPCA 613036
PNKD 609023
PNKP 605610
PNP 164050
PNPLA6 603197
PNPLA8 612123
PNPT1 610316
PODXL 602632
POLG 174763
POLG2 604983
POLR1C 610060
POLR3A 614258
POLR3B 614366
POMGNT1 606822
POMGNT2 614828
POMK 615247
POMT1 607423
POMT2 607439
PON1 168820
PPP1R15B 613257
PPP3CA 114105
PPT1 600722
PQBP1 300463
PRDM8 616639
PRF1 170280
PRICKLE1 608500
PRICKLE2 608501
PRKCG 176980
PRKN 602544
PRKRA 603424
PROK2 607002
PROKR2 607123
PRPH 170710
PRPS1 311850
PRRT2 614386
PRX 605725
PSAP 176801
PSAT1 610936
PSEN1 104311
PSEN2 600759
PSMB8 177046
PTEN 601728
PTF1A 607194
PTPN23 606584
PTRH2 608625
PTRHD1 617342
PTS 612719
PUM1 607204
PURA 600473
PYCR2 616406
PYROXD1 617220
QARS1 603727
QDPR 612676
RAB18 602207
RAB27A 603868
RAB39B 300774
RAB3GAP1 602536
RAD50 604040
RARS1 107820
RARS2 611524
REEP1 609139
REEP2 609347
RETREG1 613114
RFT1 611908
RHOBTB2 607352
RLIM 300379
RNASEH1 604123
RNASEH2A 606034
RNASEH2B 610326
RNASEH2C 610330
RNASET2 612944
RNF113A 300951
RNF125 610432
RNF168 612688
RNF170 614649
RNF216 609948
ROGDI 614574
RORA 600825
RPGRIP1L 610937
RPIA 180430
RPL10 312173
RRM2B 604712
RTN2 603183
RTN4IP1 610502
RTTN 610436
RUBCN 613516
SACS 604490
SAMD9L 611170
SAMHD1 606754
SARS1 607529
SCARB2 602257
SCN1A 182389
SCN1B 600235
SCN2A 182390
SCN8A 600702
SCN9A 603415
SCO1 603644
SCO2 604272
SCP2 184755
SCYL1 607982
SDHA 600857
SDHAF1 612848
SDHB 185470
SDHD 602690
SELENOI 607915
SEPSECS 613009
SERAC1 614725
SETX 608465
SFXN4 615564
SGCE 604149
SGPL1 603729
SH3TC2 608206
SHMT2 138450
SIGMAR1 601978
SIL1 608005
SLC12A6 604878
SLC13A5 608305
SLC16A2 300095
SLC17A5 604322
SLC18A2 193001
SLC19A2 603941
SLC19A3 606152
SLC1A3 600111
SLC1A4 600229
SLC20A2 158378
SLC25A12 603667
SLC25A15 603861
SLC25A22 609302
SLC25A4 103220
SLC25A46 610826
SLC2A1 138140
SLC30A10 611146
SLC30A9 604604
SLC33A1 603690
SLC39A14 608736
SLC39A4 607059
SLC44A1 606105
SLC46A1 611672
SLC52A2 607882
SLC52A3 613350
SLC6A1 137165
SLC6A17 610299
SLC6A19 608893
SLC6A3 126455
SLC6A8 300036
SLC9A1 107310
SLC9A6 300231
SMAD4 600993
SMC1A 300040
SMG9 613176
SMPD1 607608
SNAP25 600322
SNCA 163890
SNX14 616105
SOD1 147450
SOX10 602229
SOX2 184429
SOX6 607257
SPART 607111
SPAST 604277
SPG11 610844
SPG21 608181
SPG7 602783
SPR 182125
SPTAN1 182810
SPTBN2 604985
SPTBN4 606214
SPTLC2 605713
SQSTM1 601530
STAMBP 606247
STN1 613128
STUB1 607207
STXBP1 602926
SUCLA2 603921
SUFU 607035
SUMF1 607939
SUOX 606887
SURF1 185620
SVBP 617853
SYNE1 608441
SYNJ1 604297
SYT14 610949
SYT2 600104
TACO1 612958
TAF1 313650
TAF2 604912
TANGO2 616830
TARDBP 605078
TBC1D20 611663
TBC1D23 617687
TBC1D24 613577
TBCD 604649
TBCE 604934
TBK1 604834
TCF4 602272
TCN2 613441
TCTN1 609863
TCTN2 613846
TCTN3 613847
TDP1 607198
TDP2 605764
TECPR2 615000
TELO2 611140
TENM4 610084
TFG 602498
TGM6 613900
TH 191290
THAP1 609520
THG1L 0
THOC2 300395
TIMM8A 300356
TIMMDC1 615534
TINF2 604319
TMEM107 616183
TMEM138 614459
TMEM216 613277
TMEM231 614949
TMEM237 614423
TMEM240 616101
TMEM67 609884
TMEM70 612418
TMX2 616715
TOR1A 605204
TP53RK 608679
TPI1 190450
TPK1 606370
TPM2 190990
TPP1 607998
TRAPPC11 614138
TRAPPC12 614139
TRAPPC4 610971
TREM2 605086
TREX1 606609
TRIM32 602290
TRNT1 612907
TRPC3 602345
TRPM7 605692
TSEN15 608756
TSEN2 608753
TSEN54 608755
TSFM 604723
TTBK2 611695
TTC19 613814
TTC21B 612014
TTPA 600415
TTR 176300
TUBA1A 602529
TUBA4A 191110
TUBB 191130
TUBB3 602661
TUBB4A 602662
TUBG1 191135
TWNK 606075
TXN2 609063
TYMP 131222
TYROBP 604142
UBA5 610552
UBE3A 601623
UBQLN2 300264
UBR4 609890
UBTF 600673
UCHL1 191342
UFC1 610554
UNC80 612636
UPB1 606673
UQCC2 614461
UQCC3 616097
UQCRB 191330
UQCRC2 191329
UQCRFS1 191327
UQCRQ 612080
UROC1 613012
USP18 607057
VAC14 604632
VAMP1 185880
VAPB 605704
VARS2 612802
VCP 601023
VLDLR 192977
VPS11 608549
VPS13A 605978
VPS13C 608879
VPS13D 608877
VPS16 608550
VPS35 601501
VPS37A 609927
VPS51 615738
VPS53 615850
VRK1 602168
VWA3B 614884
WARS2 604733
WASHC5 610657
WDR26 617424
WDR45 300526
WDR62 613583
WDR73 616144
WDR81 614218
WFS1 606201
WNK1 605232
WWOX 605131
XK 314850
XPA 611153
XPNPEP3 613553
XPR1 605237
XRCC1 194360
XRCC4 194363
YME1L1 607472
ZC4H2 300897
ZFYVE26 612012
ZFYVE27 610243
ZNF142 604083
ZNF335 610827
ZNF423 604557
ZNHIT3 604500
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
2,4-dienoyl-CoA reductase deficiency AR 616034
2-Methyl-3-Hydroxybutyric Aciduria XL 300438
3-Methylcrotonyl CoA Carboxylase 2 Deficiency AR 210210
3-Methylglutaconic Aciduria AR 250950
3-Methylglutaconic Aciduria Type 3 AR 258501
3-Methylglutaconic Aciduria Type V AR 610198
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome AR 614739
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia AR 616271
3-methylglutaconic aciduria, type VIII AR 617248
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency AR 261640
Aceruloplasminemia AR 604290
Acetyl-CoA Acetyltransferase-2 Deficiency 614055
Acne Inversa, Familial, 3 AD 613737
Acquired Partial Lipodystrophy AD 608709
Acrocallosal Syndrome, Schinzel Type AR 200990
Acrodermatitis Enteropathica AR 201100
Acute Intermittent Porphyria AD 176000
Adenylosuccinate Lyase Deficiency AR 103050
Adrenoleukodystrophy XL 300100
Adult Onset Ataxia With Oculomotor Apraxia AR 208920
Adult Proximal Spinal Muscular Atrophy, Autosomal Dominant AD 182980
Age-Related Macular Degeneration 4 610698
Age-Related Macular Degeneration 5 613761
Age-Related Macular Degeneration 7 610149
Aicardi-Goutieres Syndrome 1 AD 225750
Aicardi-Goutieres Syndrome 2 AR 610181
Aicardi-Goutieres Syndrome 3 AR 610329
Aicardi-Goutieres Syndrome 4 AR 610333
Aicardi-Goutieres Syndrome 5 AR 612952
Aicardi-Goutieres Syndrome 6 AR 615010
Aicardi-Goutieres Syndrome 7 AD 615846
Al-Gazali syndrome 609465
Al-Gazali-Bakalinova syndrome AR 607131
Al-Raqad Syndrome AR 616459
Alacrima, Achalasia, and Mental Retardation Syndrome AR 615510
Alcohol Dependence MF 103780
Alexander Disease AD 203450
Allan-Herndon-Dudley Syndrome XL 300523
Alpha-Methylacyl-CoA Racemase Deficiency AR 614307
Alpha-Thalassemia Myelodysplasia Syndrome 300448
Alternating Hemiplegia Of Childhood AD 104290
Alternating Hemiplegia of Childhood 2 AD 614820
Alzheimer Disease 9, Susceptibility to AD 608907
Alzheimer Disease, Type 3 AD 607822
Alzheimer Disease, Type 4 AD 606889
Alzheimer's Disease AD 104300
Amyloidogenic Transthyretin Amyloidosis AD 105210
Amyotrophic Lateral Sclerosis 16, Juvenile AR 614373
Amyotrophic lateral sclerosis 19 AD 615515
Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia AD 616208
Amyotrophic lateral sclerosis 5, juvenile AR 602099
Amyotrophic Lateral Sclerosis Type 1 AD 105400
Amyotrophic Lateral Sclerosis Type 10 AD 612069
Amyotrophic Lateral Sclerosis Type 11 AD 612577
Amyotrophic Lateral Sclerosis Type 12 613435
Amyotrophic Lateral Sclerosis Type 14 613954
Amyotrophic Lateral Sclerosis Type 15 XL 300857
Amyotrophic Lateral Sclerosis Type 17 AD 614696
Amyotrophic Lateral Sclerosis Type 18 614808
Amyotrophic Lateral Sclerosis Type 2 AR 205100
Amyotrophic Lateral Sclerosis Type 20 AD 615426
Amyotrophic Lateral Sclerosis Type 4 AD 602433
Amyotrophic Lateral Sclerosis Type 6 608030
Amyotrophic Lateral Sclerosis Type 8 AD 608627
Amyotrophic Lateral Sclerosis Type 9 611895
Amyotrophic Lateral Sclerosis, Susceptibility to, 25 AD 617921
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 AD 105500
Andermann Syndrome AR 218000
Anemia Sideroblastic And Spinocerebellar Ataxia XL 301310
Anemia, sideroblastic, 3, pyridoxine-refractory AR 616860
Angelman Syndrome AD 105830
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps AD 611773
Aniridia, Cerebellar Ataxia, And Mental Retardation AD 206700
Aplastic Anemia 609135
Arginase Deficiency AR 207800
Argininosuccinate Lyase Deficiency AR 207900
Arthrogryposis multiplex congenita 5 AR 618947
Arthrogryposis Multiplex Congenita Distal Type 1 AD 108120
Arthrogryposis multiplex congenita, myogenic type AR 618484
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development AD 618265
Arthrogryposis, Distal, Type 1B AD 614335
Arthrogryposis, Distal, Type 3 AD 114300
Arthrogryposis, Distal, Type 5 AD 108145
Arthrogryposis, Distal, with Impaired Proprioception and Touch AR 617146
Arts Syndrome XL 301835
Asparagine synthetase deficiency AR 615574
Aspartylglycosaminuria AR 208400
Ataxia With Vitamin E Deficiency AR 277460
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus AR 616192
Ataxia, sensory, 1, autosomal dominant AD 608984
Ataxia-Oculomotor Apraxia 3 AR 615217
Ataxia-oculomotor apraxia 4 AR 616267
Ataxia-Pancytopenia Syndrome AD 159550
Ataxia-Telangiectasia Syndrome AR 208900
Ataxia-Telangiectasia-Like Disorder AR 604391
Ataxia-telangiectasia-like disorder 2 AR 615919
ATR-X Syndrome XL 301040
Atrial Fibrillation, Familial, 13 AD 615377
Atrioventricular Septal Defect AD 600309
Attention Deficit-Hyperactivity Disorder AD 143465
Atypical Hemolytic-Uremic Syndrome 1 AD 235400
Autism 15 612100
Autism, Susceptibility To, X-Linked 3 XL 300496
Autism, Susceptibility To, X-Linked 5 300847
Autosomal Recessive Cutis Laxa Type 3A AR 219150
Band Heterotopia AR 600348
Baraitser-Winter Syndrome 1 AD 243310
Bardet-Biedl Syndrome 1 AR 209900
Bardet-Biedl Syndrome 10 AR 615987
Bardet-Biedl Syndrome 11 AR 615988
Bardet-Biedl Syndrome 12 AR 615989
Bardet-Biedl Syndrome 13 AR 615990
Bardet-Biedl Syndrome 14 AR 615991
Bardet-Biedl Syndrome 19 AR 615996
Bardet-Biedl Syndrome 2 AR 615981
Bardet-Biedl Syndrome 3 AR 600151
Bardet-Biedl Syndrome 4 AR 615982
Bardet-Biedl Syndrome 5 AR 615983
Bardet-Biedl Syndrome 7 AR 615984
Bardet-Biedl Syndrome 9 AR 615986
Basal Ganglia Calcification, Idiopathic, 1 AD 213600
Basal Ganglia Calcification, Idiopathic, 4 AD 615007
Basal Ganglia Calcification, Idiopathic, 5 AD 615483
Basal Ganglia Calcification, Idiopathic, 6 AD 616413
Basal Ganglia Disease, Biotin-Responsive AR 607483
Basal Laminar Drusen AD 126700
Basel-Vanagait-Smirin-Yosef Syndrome AR 616449
Behr Syndrome AR 210000
Benign Familial Neonatal Seizures 1 AD 121200
Benign Familial Neonatal-Infantile Seizures AD 607745
Benign Hereditary Chorea AD 118700
Beta-Hydroxyisobutyryl-CoA Deacylase Deficiency AR 250620
Beta-Ureidopropionase Deficiency AR 613161
Bethlem Myopathy AD 158810
Bethlem Myopathy AD 158810
Bile Acid Synthesis Defect, Congenital, 3 AR 613812
Bile Acid Synthesis Defect, Congenital, 4 AR 214950
Bile acid synthesis defect, congenital, 6 AR 617308
Birk-Landau-Perez syndrome AR 617595
Bjornstad Syndrome AR 262000
Blepharospasm AD 606798
Boucher-Neuhauser syndrome AR 215470
Brain abnormalities, neurodegeneration, and dysosteosclerosis AR 618476
Brown-Vialetto-Van Laere Syndrome AR 211530
Brown-Vialetto-Van Laere syndrome 2 AR 614707
Brugada Syndrome 5 612838
Brugada Syndrome 9 AD 616399
CAPOS syndrome AD 601338
CARASIL Syndrome AR 600142
Cardiac Valvular Dysplasia, X-Linked XL 314400
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 AR 604377
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 2 AR 615119
Cardiomyopathy, Dilated, 1gg AR 613642
Cardiomyopathy, Dilated, 1U AD 613694
Cardiomyopathy, Dilated, 1V AD 613697
Cardiomyopathy, familial restrictive 5 AD 617047
Carpal Tunnel Syndrome AD 115430
Cataract 41 AD 116400
Cerebellar ataxia and hypogonadotropic hypogonadism AR 212840
Cerebellar Ataxia, Cayman Type AR 601238
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant AD 604121
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 AR 610185
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 AR 613227
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 AR 615268
Cerebellar ataxia, nonprogressive, with mental retardation AD 614756
Cerebellar atrophy with seizures and variable developmental delay AR 618501
Cerebellar atrophy, developmental delay, and seizures AR 617643
Cerebellar Atrophy, Vsual Impairment, and Psychomotor Retardation AR 616875
Cerebral Amyloid Angiopathy, App-Related AD 605714
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 AD 616779
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy AD 125310
Cerebral Creatine Deficiency Syndrome 1 XL 300352
Cerebral Folate Deficiency AR 613068
Cerebral Palsy, Spastic Quadriplegic, 1 AR 603513
Cerebral Palsy, Spastic Quadriplegic, 2 612900
Cerebral palsy, spastic quadriplegic, 3 AR 617008
Cerebro-Oculo-Facio-Skeletal Syndrome AR 214150
Cerebrooculofacioskeletal Syndrome 2 AR 610756
Cerebrooculofacioskeletal syndrome 3 AR 616570
Cerebrooculofacioskeletal Syndrome 4 AR 610758
Cerebroretinal Microangiopathy with Calcifications and Cysts AR 612199
Cerebroretinal microangiopathy with calcifications and cysts 2 AR 617341
Cerebrotendinous Xanthomatosis AR 213700
Ceroid Lipofuscinosis Neuronal 1 AR 256730
Ceroid Lipofuscinosis Neuronal 10 AR 610127
Ceroid Lipofuscinosis Neuronal 11 AR 614706
Ceroid Lipofuscinosis Neuronal 12 AR 606693
Ceroid Lipofuscinosis Neuronal 13 AR 615362
Ceroid Lipofuscinosis Neuronal 14 AR 611726
Ceroid Lipofuscinosis Neuronal 2 AR 204500
Ceroid Lipofuscinosis Neuronal 3 AR 204200
Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive AR 204300
Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant AD 162350
Ceroid Lipofuscinosis Neuronal 5 AR 256731
Ceroid Lipofuscinosis Neuronal 6 AR 601780
Ceroid Lipofuscinosis Neuronal 7 AR 610951
Ceroid Lipofuscinosis Neuronal 8 AR 600143
Ceroid Lipofuscinosis Neuronal 8, Northern Epilepsy Variant AR 610003
Chanarin-Dorfman Syndrome AR 275630
Charcot-Marie-Tooth Disease Dominant Intermediate 3 AD 607791
Charcot-Marie-Tooth Disease Type 2B2 AR 605589
Charcot-Marie-Tooth Disease Type 2E AD 607684
Charcot-Marie-Tooth Disease Type 2I AD 607677
Charcot-Marie-Tooth Disease Type 2J AD 607736
Charcot-Marie-Tooth disease, axonal, type 2A2B AR 617087
Charcot-Marie-Tooth disease, axonal, type 2CC AD 616924
Charcot-Marie-Tooth disease, axonal, type 2EE AR 618400
Charcot-Marie-Tooth Disease, Axonal, Type 2O AD 614228
Charcot-Marie-Tooth disease, axonal, type 2T AD 617017
Charcot-Marie-Tooth disease, axonal, type 2V AD 616491
Charcot-Marie-Tooth disease, axonal, type 2W AD 616625
Charcot-Marie-Tooth disease, axonal, type 2X AR 616668
Charcot-Marie-Tooth disease, axonal, type 2Z AD 616688
Charcot-Marie-Tooth Disease, Dominant Intermediate B AD 606482
Charcot-Marie-Tooth disease, dominant intermediate G AD 617882
Charcot-Marie-Tooth Disease, Recessive Intermediate B AR 613641
Charcot-Marie-Tooth Disease, Type 1A AD 118220
Charcot-Marie-Tooth Disease, Type 1D AD 607678
Charcot-Marie-Tooth Disease, Type 1E AD 118300
Charcot-Marie-Tooth Disease, Type 1F AD 607734
Charcot-Marie-Tooth Disease, Type 2A1 AD 118210
Charcot-Marie-Tooth Disease, Type 2A2 AD 609260
Charcot-Marie-Tooth Disease, Type 2N AD 613287
Charcot-Marie-Tooth Disease, Type 2U AD 616280
Charcot-Marie-Tooth Disease, Type 2Y AD 616687
Charcot-Marie-Tooth Disease, Type 3 AD 145900
Charcot-Marie-Tooth Disease, Type 4C AR 601596
Charcot-Marie-Tooth Disease, Type 4D AR 601455
Charcot-Marie-Tooth Disease, Type 4E AD 605253
Charcot-Marie-Tooth Disease, Type 4F AR 614895
Charcot-Marie-Tooth Disease, Type 4H AR 609311
Charcot-Marie-Tooth Disease, Type 4J AR 611228
Charcot-Marie-Tooth Disease, Type 4K AR 616684
Charcot-Marie-Tooth Disease, Type Ib AD 118200
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 XL 302800
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 XL 311070
Charcot-Marie-Toothe Disease, Type 2P AD 614436
Chediak-Higashi Syndrome AR 214500
Chilblain lupus 2 AD 614415
Chilblain Lupus Erythematosus AD 610448
CHMP2B-Related Frontotemporal Dementia AD 600795
Chorea, childhood-onset, with psychomotor retardation AR 616939
Choreoacanthocytosis AR 200150
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress AD 610978
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome AR 256040
Citrullinemia Type I AR 215700
COACH Syndrome AR 216360
COACH syndrome 2 619111
COACH syndrome 3 619113
Cockayne Syndrome Type I AR 216400
Cockayne Syndrome, Type B AR 133540
Coenzyme Q10 Deficiency AR 607426
Coenzyme Q10 Deficiency, Primary, 2 AR 614651
Coenzyme Q10 deficiency, primary, 3 AR 614652
Coenzyme Q10 Deficiency, Primary, 4 AR 612016
Coenzyme Q10 Deficiency, Primary, 5 AR 614654
Coenzyme Q10 deficiency, primary, 6 AR 614650
Coenzyme Q10 Deficiency, Primary, 7 AR 616276
Coenzyme Q10 Deficiency, Primary, 8 AR 616733
Coenzyme Q10 deficiency, primary, 9 AR 619028
Cognitive Impairment With Or Without Cerebellar Ataxia AD 614306
Cold-Induced Sweating Syndrome 1 AR 272430
Combined Oxidative Phosphorylation Deficiency 1 AR 609060
Combined Oxidative Phosphorylation Deficiency 10 AR 614702
Combined Oxidative Phosphorylation Deficiency 12 AR 614924
Combined Oxidative Phosphorylation Deficiency 13 AR 614932
Combined oxidative phosphorylation deficiency 14 AR 614946
Combined Oxidative Phosphorylation Deficiency 18 AR 615578
Combined Oxidative Phosphorylation Deficiency 20 AR 615917
Combined Oxidative Phosphorylation Deficiency 25 AR 616430
Combined Oxidative Phosphorylation Deficiency 27 AR 616672
Combined oxidative phosphorylation deficiency 29 AR 616811
Combined Oxidative Phosphorylation Deficiency 3 AR 610505
Combined oxidative phosphorylation deficiency 31 AR 617228
Combined oxidative phosphorylation deficiency 32 AR 617664
Combined oxidative phosphorylation deficiency 39 AR 618397
Combined oxidative phosphorylation deficiency 44 AR 618855
Combined Oxidative Phosphorylation Deficiency 5 AR 611719
Combined Oxidative Phosphorylation Deficiency 6 XL 300816
Combined Oxidative Phosphorylation Deficiency 8 AR 614096
Combined Saposin Deficiency AR 611721
Congenital Cataracts, Facial Dysmorphism, And Neuropathy AR 604168
Congenital Cataracts, Hearing Loss, and Neurodegeneration AR 614482
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay AD 616266
Congenital Disorder of Deglycosylation AR 615273
Congenital Disorder Of Glycosylation Type 1A AR 212065
Congenital Disorder Of Glycosylation Type 1C AR 603147
Congenital Disorder Of Glycosylation Type 1E AR 608799
Congenital Disorder Of Glycosylation Type 1F AR 609180
Congenital Disorder Of Glycosylation Type 2I AR 613612
Congenital Disorder Of Glycosylation Type IIj AR 613489
Congenital Disorder of Glycosylation Type IIq AR 617395
Congenital Disorder Of Glycosylation Type In AR 612015
Congenital disorder of glycosylation, type IIr XL 301045
Congenital Generalized Lipodystrophy Type 2 AR 269700
Congenital Hyperammonemia, Type I AR 237300
Congenital Muscular Dystrophy-Dystroglycanopathy (With Brain And Eye Anomalies) Type A5 AR 613153
Congenital Muscular Dystrophy-Dystroglycanopathy (With Or Without Mental Retardation) Type 5B AR 606612
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis AD 602066
Corneal dystrophy, Fuchs endothelial, 3 AD 613267
Cornelia de Lange syndrome 2 XL 300590
Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia AR 616819
Corpus Callosum, Partial Agenesis Of, X-Linked XL 304100
Cortical Dysplasia, Complex, With Other Brain Malformations AD 614039
Cortical dysplasia, complex, with other brain malformations 2 AD 615282
Cortical dysplasia, complex, with other brain malformations 3 AD 615411
Cortical Dysplasia, Complex, with other Brain Malformations 4 AD 615412
Cortical dysplasia, complex, with other brain malformations 6 AD 615771
Cortical Dysplasia-Focal Epilepsy Syndrome AR 610042
Cowchock Syndrome XL 310490
Cowden Disease AD 158350
Craniometaphyseal dysplasia, autosomal recessive AR 218400
Cutis Laxa, Autosomal Dominant 3 AD 616603
D-Bifunctional Protein Deficiency AR 261515
De Sanctis-Cacchione Syndrome AR 278800
Deafness , autosomal recessive 86 AR 614617
Deafness, Autosomal Dominant 11 AD 601317
Deafness, Autosomal Dominant 4 AD 600652
Deafness, Autosomal Dominant 6 AD 600965
Deafness, autosomal dominant 65 AD 616044
Deafness, autosomal dominant 71 AD 617605
Deafness, Autosomal Recessive 2 AR 600060
Deafness, autosomal recessive 70 AR 614934
Deafness, autosomal recessive 89 AR 613916
Deafness, Dystonia, and Cerebral Hypomyelination XL 300475
Deafness, X-Linked 1 XL 304500
Deafness, X-Linked 5 XL 300614
Deficiency Of Alpha-Mannosidase AR 248500
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase AR 608643
Deficiency Of Glycerate Kinase AR 220120
Deficiency Of Guanidinoacetate Methyltransferase AR 612736
Deficiency Of Ribose-5-Phosphate Isomerase AR 608611
Dementia Familial British AD 176500
Dementia, Familial Danish AD 117300
Dermatofibrosarcoma protuberans 607907
Desmosterolosis AR 602398
Developmental and Epileptic Encephalopathy 4 AD 612164
Developmental and epileptic encephalopathy 89 AR 619124
Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness AR 222300
Diabetes Mellitus, Noninsulin-Dependent AD 125853
Diabetes mellitus, permanent neonatal 3, with or without neurologic features AD 618857
Diabetes Mellitus, Permanent Neonatal, With Cerebellar Agenesis AR 609069
Dihydrolipoamide dehydrogenase deficiency AR 246900
Dihydropteridine Reductase Deficiency AR 261630
Dihydropyrimidinase Deficiency AR 222748
Dihydropyrimidine Dehydrogenase Deficiency AR 274270
Dilated Cardiomyopathy 1X AR 611615
Dominant Hereditary Optic Atrophy AD 165500
DOOR syndrome AR 220500
Dyskeratosis Congenita X-Linked XL 305000
Dyskeratosis Congenita, Autosomal Dominant, 3 AD 613990
Dyskeratosis Congenita, Autosomal Recessive 6 AR 616353
Dyskinesia, familial, with facial myokymia AD 606703
Dyskinesia, limb and orofacial, infantile-onset AR 616921
Dyskinesia, Seizures, and Intellectual Developmental Disorder AR 617171
Dyssegmental Dysplasia Silverman-Handmaker Type AR 224410
Dystonia 1 AD 128100
Dystonia 12 AD 128235
Dystonia 16 AR 612067
Dystonia 2, torsion, autosomal recessive AR 224500
Dystonia 24 AD 615034
Dystonia 25 AD 615073
Dystonia 26, myoclonic AD 616398
Dystonia 27 AR 616411
Dystonia 28, childhood-onset AD 617284
Dystonia 3, Torsion, X-Linked XL 314250
Dystonia 4, Torsion AD 128101
Dystonia 5, Dopa-Responsive Type AD 128230
Dystonia 6, Torsion AD 602629
Dystonia 9 AD 601042
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities AR 617282
Dystransthyretinemic Euthyroidal Hyperthyroxinemia AD 145680
Ehlers-Danlos Syndrome, Progeroid Type, 2 AR 615349
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant AD 612998
Encephalocraniocutaneous lipomatosis 613001
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 AR 617086
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 AD 617900
Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission AD 614388
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations XL 300673
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities AR 617668
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity AR 617669
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum AR 617193
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy AR 617186
Encephalopathy, progressive, with amyotrophy and optic atrophy AR 617207
Encephalopathy, progressive, with or without lipodystrophy AR 615924
Enlarged Vestibular Aqueduct Syndrome AR 600791
Epilepsy, Childhood Absence 5 612269
Epilepsy, Idiopathic Generalized 9 AD 607682
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 AD 607628
Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 AD 614847
Epilepsy, Myoclonic, Familial Adult, 5 AR 615400
Epilepsy, nocturnal frontal lobe, 5 AD 615005
Epilepsy, Progressive Myoclonic 3 AR 611726
Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure AR 254900
Epilepsy, Progressive Myoclonic 6 AR 614018
Epilepsy, Progressive Myoclonic 7 AD 616187
Epilepsy, Progressive Myoclonic, 10 AR 616640
Epilepsy, Progressive Myoclonic, 9 AR 616540
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp AR 608105
Epileptic encephalopathy, early infantile, 1 XL 308350
Epileptic Encephalopathy, Early Infantile, 10 AR 613402
Epileptic Encephalopathy, Early Infantile, 11 AD 613721
Epileptic Encephalopathy, Early Infantile, 12 AR 613722
Epileptic Encephalopathy, Early Infantile, 13 AD 614558
Epileptic encephalopathy, early infantile, 14 AD 614959
Epileptic Encephalopathy, Early Infantile, 16 AR 615338
Epileptic Encephalopathy, Early Infantile, 17 AD 615473
Epileptic Encephalopathy, Early Infantile, 2 XL 300672
Epileptic Encephalopathy, Early Infantile, 21 AR 615833
Epileptic Encephalopathy, Early Infantile, 24 AD 615871
Epileptic Encephalopathy, Early Infantile, 25 AR 615905
Epileptic Encephalopathy, Early Infantile, 27 AD 616139
Epileptic Encephalopathy, Early Infantile, 28 AR 616211
Epileptic Encephalopathy, Early Infantile, 29 AR 616339
Epileptic Encephalopathy, Early Infantile, 3 AR 609304
Epileptic Encephalopathy, Early Infantile, 32 AD 616366
Epileptic Encephalopathy, Early Infantile, 37 AR 616981
Epileptic Encephalopathy, Early Infantile, 38 AR 617020
Epileptic Encephalopathy, Early Infantile, 39 AR 612949
Epileptic Encephalopathy, Early Infantile, 42 AD 617106
Epileptic Encephalopathy, Early Infantile, 43 AD 617113
Epileptic Encephalopathy, Early Infantile, 44 AR 617132
Epileptic Encephalopathy, Early Infantile, 45 AD 617153
Epileptic Encephalopathy, Early Infantile, 46 AD 617162
Epileptic Encephalopathy, Early Infantile, 47 AD 617166
Epileptic Encephalopathy, Early Infantile, 48 AR 617276
Epileptic Encephalopathy, Early Infantile, 5 AD 613477
Epileptic Encephalopathy, Early Infantile, 51 AR 617339
Epileptic encephalopathy, early infantile, 52 AR 617350
Epileptic Encephalopathy, Early Infantile, 53 AR 617389
Epileptic encephalopathy, early infantile, 64 AD 618004
Epileptic Encephalopathy, Early Infantile, 7 AD 613720
Epileptic encephalopathy, early infantile, 71 AR 618328
Epileptic encephalopathy, early infantile, 75 AR 618437
Epileptic encephalopathy, early infantile, 76 AR 618468
Epileptic encephalopathy, early infantile, 77 AR 618548
Epileptic encephalopathy, early infantile, 81 AR 618663
Epileptic encephalopathy, early infantile, 85, with or without midline brain defects XL 301044
Epileptic Encephalopathy, Early Infantile, 9 XL 300088
Epileptic Encephalopathy, Infantile or Early Childhood, 1 AD 617711
Epileptic Encephalopathy, Infantile or Early Childhood, 2 AD 617829
Episodic Ataxia Type 1 AD 160120
Episodic Ataxia Type 2 AD 108500
Episodic Ataxia, Type 5 AD 613855
Episodic Ataxia, Type 6 AD 612656
Episodic ataxia, type 9 AD 618924
Episodic Kinesigenic Dyskinesia 1 AD 128200
Erythrokeratodermia variabilis et progressiva 3 AD 617525
Esophageal Cancer 133239
Essential Hypertension MF 145500
Essential tremor, hereditary, 4 AD 614782
Essential tremor, hereditary, 5 AD 616736
Ethylmalonic Encephalopathy AR 602473
eukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant AD 169500
Exostoses, Multiple, Type II AD 133701
Exudative Vitreoretinopathy 7 AD 617572
Factor H Deficiency AD 609814
Familial Cancer Of Breast 114480
Familial Colorectal Cancer 114500
Familial Hemiplegic Migraine Type 1 AD 141500
Familial Hemiplegic Migraine Type 2 AD 602481
Familial Hemiplegic Migraine Type 3 AD 609634
Familial Hypoalphalipoproteinemia 604091
Familial Hypobetalipoproteinemia AR 200100
Familial Non-Hodgkin Lymphoma 605027
Fanconi anemia, Complementation Group Q AR 615272
Fanconi renotubular syndrome 5 AR 618913
Farber's Lipogranulomatosis AR 228000
Fazio-Londe Disease AR 211500
FG Syndrome 2 XL 300321
FG Syndrome 4 300422
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement AD 600638
Filippi syndrome AR 272440
Folate Malabsorption, Hereditary AR 229050
Friedreich's Ataxia AR 229300
Frontometaphyseal Dysplasia XL 305620
Frontotemporal Dementia AD 600274
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 AD 615911
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 AD 616437
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 AD 616439
Frontotemporal Dementia, Ubiquitin-Positive AD 607485
Fucosidosis AR 230000
Fukuyama Congenital Muscular Dystrophy AR 253800
Galactosylceramide Beta-Galactosidase Deficiency AR 245200
Galloway-Mowat Syndrome AR 251300
Galloway-Mowat Syndrome 2, X-linked XL 301006
Galloway-Mowat Syndrome 3 AR 617729
Galloway-Mowat Syndrome 4 AR 617730
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To AR 230450
Ganglioside Sialidase Deficiency AR 252650
Gangliosidosis GM1 Type 3 AR 230650
Gastrointestinal Stromal Tumors AD 606764
Gaucher Disease, Atypical, Due To Saposin C Deficiency 610539
Gaucher Disease, Perinatal Lethal AR 608013
Gaucher Disease, Type 1 AR 230800
Gaucher Disease, Type II AR 230900
Gaucher Disease, Type III AR 231000
Gaucher Disease, Type IIIc AR 231005
Gaze palsy, familial horizontal, with progressive scoliosis, 2 AR 617542
Generalized Epilepsy And Paroxysmal Dyskinesia AD 609446
Generalized Epilepsy With Febrile Seizures Plus, Type 1 AD 604233
Generalized epilepsy with febrile seizures plus, type 10 AD 618482
Generalized Epilepsy With Febrile Seizures Plus, Type 2 AD 604403
Generalized Epilepsy With Febrile Seizures Plus, Type 7 AD 613863
Giant Axonal Neuropathy AR 256850
Glaucoma, Normal Tension, Susceptibility To 606657
Glaucoma, primary closed-angle AD 618880
Glioma Susceptibility 2 613028
Global developmental delay, progressive ataxia, and elevated glutamine AR 618412
Glucocorticoid Deficiency With Achalasia AR 231550
Glut1 Deficiency Syndrome 1 AD 606777
Glut1 Deficiency Syndrome 2 AD 612126
Glutaric Aciduria, Type 1 AR 231670
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To AR 231900
Gluthathione Synthetase Deficiency AR 266130
Glycogen Storage Disease Type IV AR 232500
Glycogen Storage Disease Type IXd XL 300559
Glycosylphosphatidylinositol biosynthesis defect 15 AR 617810
Glycosylphosphatidylinositol biosynthesis defect 18 AR 618143
Gorlin Syndrome AD 109400
Gout, HPRT-Related XL 300323
GRACILE Syndrome AR 603358
Griscelli Syndrome Type 2 AR 607624
Gtp Cyclohydrolase I Deficiency AR 233910
Hartnup Disease AR 234500
Hartsfield syndrome AD 615465
Heart and brain malformation syndrome AR 616920
Heimler syndrome 1 AR 234580
Heimler syndrome 2 AR 616617
Hemolytic Anemia Due To Hexokinase Deficiency AR 235700
Hemolytic Anemia due to Triosephosphate Isomerase Deficiency AR 615512
Hemophagocytic Lymphohistiocytosis, Familial, 2 AR 603553
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts AR 613730
Hereditary Liability To Pressure Palsies AD 162500
Hereditary Lymphedema Type 1C AD 613480
Hermansky-Pudlak Syndrome 10 AR 617050
Heterotopia, Periventricular, Autosomal Recessive AR 608097
Hydrocephalus, Nonsyndromic, 1 AR 236600
Hydrocephalus, Nonsyndromic, 3 AR 617967
Hydrolethalus Syndrome 2 AR 614120
Hyperaldosteronism, familial, type II AD 605635
Hypercholesterolemia, Autosomal Dominant, Type B AD 144010
Hyperekplexia Hereditary AD 149400
Hyperferritinemia Cataract Syndrome AD 600886
Hyperglycinuria AD 138500
Hyperimmunoglobulin D With Periodic Fever AR 260920
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive AR 243700
Hyperinsulinemic Hypoglycemia, Familial, 1 AD 256450
Hyperlysinemia AR 238700
Hypermanganesemia with dystonia 1 AR 613280
Hypermanganesemia with dystonia 2 AR 617013
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome AR 238970
Hyperostosis cranalis interna AD 144755
Hyperphenylalaninemia, Mild, Non-BH4-Deficient AR 617384
Hypobetalipoproteinemia AR 615558
Hypomyelinating neuropathy, congenital, 2 AD 618184
Hypomyelinating neuropathy, congenital, 3 AR 618186
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity AR 615281
Hypoparathyroidism Retardation Dysmorphism Syndrome AR 241410
Hypoplastic Left Heart Syndrome AR 241550
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration AR 607236
Hypotonia, ataxia, and delayed development syndrome AD 617330
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome AD 617915
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies AR 615419
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 AR 616801
Ichthyosis, spastic quadriplegia, and mental retardation AR 614457
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies AD 618527
Iminoglycinuria AR 242600
Immunodeficiency 23 AR 615816
Immunodeficiency 49 AD 617237
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia AD 167320
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2 615422
Inclusion Body Myopathy with Early-Onset Paget Disease without Frontotemporal Dementia 3 AD 615424
Indifference To Pain, Congenital, Autosomal Recessive AR 243000
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development AD 618339
Infantile cerebellar-retinal degeneration AR 614559
Infantile Gm1 Gangliosidosis AR 230500
Infantile Neuroaxonal Dystrophy AR 256600
Infantile Parkinsonism-Dystonia AR 613135
Infantile-Onset Ascending Hereditary Spastic Paralysis AR 607225
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease AR 616263
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities AD 618092
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia AD 618060
Intellectual developmental disorder with poor growth and with or without seizures or ataxia AR 618808
Intellectual developmental disorder with severe speech and ambulation defects AD 618470
Interstitial Lung and Liver Disease AR 615486
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked XL 300048
Ischemic Stroke MF 601367
Jackson-Weiss Syndrome AD 123150
Joubert Syndrome AR 614615
Joubert Syndrome 1 AR 213300
Joubert Syndrome 10 XL 300804
Joubert Syndrome 13 AR 614173
Joubert syndrome 14 AR 614424
Joubert syndrome 15 AR 614464
Joubert syndrome 16 AR 614465
Joubert syndrome 18 AR 614815
Joubert syndrome 19 AD 614844
Joubert Syndrome 2 AR 608091
Joubert syndrome 20 AR 614970
Joubert Syndrome 21 AR 615636
Joubert Syndrome 22 AR 615665
Joubert Syndrome 23 AR 616490
Joubert Syndrome 24 AR 616654
Joubert Syndrome 25 AR 616781
Joubert Syndrome 26 AR 616784
Joubert Syndrome 27 AR 617120
Joubert Syndrome 28 AR 617121
Joubert Syndrome 3 AR 608629
Joubert Syndrome 30 AR 617622
Joubert Syndrome 31 AR 617761
Joubert Syndrome 32 AR 617757
Joubert Syndrome 33 AR 617767
Joubert Syndrome 4 AR 609583
Joubert Syndrome 5 AR 610188
Joubert Syndrome 6 AR 610688
Joubert Syndrome 7 AR 611560
Joubert Syndrome 8 AR 612291
Joubert Syndrome 9 AR 612285
Juvenile Amyotrophic Lateral Sclerosis AR 205100
Juvenile GM1 Gangliosidosis AR 230600
Juvenile Myelomonocytic Leukemia 607785
Juvenile Polyposis Syndrome AD 174900
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome AD 175050
Juvenile Primary Lateral Sclerosis AR 606353
Juvenile-Onset Dystonia AD 607371
Kallmann Syndrome 1 XL 308700
Kallmann Syndrome 2 AD 147950
Kallmann Syndrome 3 AD 244200
Kallmann Syndrome 4 AD 610628
Kanzaki Disease AR 609242
Kenny-Caffey Syndrome Type 1 AR 244460
Keppen-Lubinsky syndrome AD 614098
Knobloch Syndrome 1 AR 267750
Kohlschutter-Tonz syndrome AR 226750
Kosaki overgrowth syndrome AD 616592
Krabbe Disease Atypical Due To Saposin A Deficiency AR 611722
L-2-Hydroxyglutaric Aciduria AR 236792
L-ferritin deficiency, dominant and recessive AD 615604
Lafora Disease AR 254780
Lateral meningocele syndrome AD 130720
Laurence-Moon syndrome AR 245800
Leber Congenital Amaurosis 10 611755
Leber Congenital Amaurosis 9 AR 608553
Leigh Syndrome MT 256000
Leigh Syndrome, French Canadian Type AR 220111
Lesch-Lyhan Syndrome XL 300322
Lethal congenital contracture syndrome 4 AR 614915
Lethal Congenital Contracture Syndrome 5 AR 615368
Lethal congenital contracture syndrome 7 AR 616286
Lethal congenital contracture syndrome 8 AR 616287
Leucine-Induced Hypoglycemia AD 240800
Leukodystrophy and acquired microcephaly with or without dystonia AR 616763
Leukodystrophy, Hypomyelinating 3 AR 260600
Leukodystrophy, hypomyelinating, 10 AR 616420
Leukodystrophy, Hypomyelinating, 11 AR 616494
Leukodystrophy, hypomyelinating, 12 AR 616683
Leukodystrophy, hypomyelinating, 13 AR 616881
Leukodystrophy, Hypomyelinating, 2 AR 608804
Leukodystrophy, Hypomyelinating, 4 AR 612233
Leukodystrophy, Hypomyelinating, 6 AD 612438
Leukodystrophy, Hypomyelinating, 7, with Or wthout Oligodontia and/or Hypogonadotropic Hypogonadism AR 607694
Leukodystrophy, Hypomyelinating, 8, with Or without Oligodontia and/or Hypogonadotropic Hypogonadism AR 614381
Leukodystrophy, Hypomyelinating, 9 AR 616140
Leukoencephalopathy with Ataxia AR 615651
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation AR 611105
Leukoencephalopathy with Dystonia and Motor Neuropathy AR 613724
Leukoencephalopathy With Vanishing White Matter AR 603896
Leukoencephalopathy, Cystic, Without Megalencephaly AR 612951
Leukoencephalopathy, Diffuse Hereditary, with Spheroids AD 221820
Leukoencephalopathy, Progressive, with Ovarian Failure AR 615889
Lewy Body Dementia AD 127750
Liang-Wang syndrome AD 618729
Lichtenstein-Knorr syndrome AR 616291
Limb-Girdle Muscular Dystrophy, Type 2H AR 254110
Lipodystrophy, Congenital Generalized, Type 3 AR 612526
Lipoyltransferase 1 Deficiency AR 616299
Lissencephaly 1 AD 607432
Lissencephaly 3 AD 611603
Lissencephaly 4 AR 614019
Liver Cancer 114550
Lung Cancer 211980
Macrocephaly, dysmorphic facies, and psychomotor retardation AR 617011
Macrocephaly/Autism Syndrome AD 605309
Macular Dystrophy with Central Cone Involvement AR 616170
Maple Syrup Urine Disease AR 248600
Marden-Walker Syndrome AD 248700
Marinesco-Sjogren Syndrome AR 248800
MASA Syndrome XL 303350
Mast Syndrome AR 248900
McLeod Syndrome XL 300842
Meckel Syndrome 1 AR 249000
Meckel syndrome 11 AR 615397
Meckel Syndrome 13 AR 617562
Meckel Syndrome 2 AR 603194
Meckel Syndrome 3 AR 607361
Meckel Syndrome 4 AR 611134
Meckel Syndrome 5 AR 611561
Meckel Syndrome 6 AR 612284
Meckel Syndrome 8 AR 613885
Meckel Syndrome 9 AR 614209
MECP2 Duplication Syndrome XL 300260
Medulloblastoma 155255
Megalencephalic Leukoencephalopathy With Subcortical Cysts AR 604004
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A AR 613925
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Mental Retardation AD 613926
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency AR 613839
Melnick-Needles Syndrome XL 309350
Meningioma, Familial 607174
Menke-Hennekam syndrome 1 AD 618332
Menkes Kinky-Hair Syndrome XL 309400
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects AD 616789
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia XL 300749
Mental Retardation, Autosomal Dominant 1 AD 156200
Mental Retardation, Autosomal Dominant 13; MRD13 AD 614563
Mental Retardation, Autosomal Dominant 18 AD 615074
Mental Retardation, Autosomal dominant 19 AD 615075
Mental Retardation, Autosomal Dominant 24 AD 615828
Mental Retardation, Autosomal Dominant 31 AD 616158
Mental retardation, autosomal dominant 40 AD 616579
Mental Retardation, Autosomal Dominant 56 AD 617854
Mental Retardation, Autosomal Dominant 6 AD 613970
Mental Retardation, Autosomal Dominant 7 AD 614104
Mental Retardation, Autosomal Dominant 8 AD 614254
Mental Retardation, Autosomal Dominant 9 AD 614255
Mental retardation, autosomal recessive 40 AR 615599
Mental retardation, autosomal recessive 42 AR 615802
Mental retardation, autosomal recessive 48 AR 616269
Mental retardation, autosomal recessive 5 AR 611091
Mental Retardation, Autosomal Recessive 53 AR 616917
Mental Retardation, Autosomal Recessive 58 AR 617270
Mental Retardation, Autosomal Recessive 6 AR 611092
Mental retardation, autosomal recessive 66 AR 618221
Mental retardation, autosomal recessive, 37 AR 615493
Mental Retardation, X-Linked 102 XL 300958
Mental Retardation, X-linked 12/35 XL 300957
Mental Retardation, X-Linked 3 (Methylmalonic Acidemia and Homocysteinemia, cblX Type) XL 309541
Mental Retardation, X-linked 61 XL 300978
Mental Retardation, X-Linked 72 XL 300271
Mental Retardation, X-linked 98 XL 300912
Mental Retardation, X-Linked, Syndromic 13 XL 300055
Mental Retardation, X-linked, Syndromic 32 XL 300886
Mental Retardation, X-linked, Syndromic 33 XL 300966
Mental Retardation, X-linked, Syndromic, 35 XL 300998
Mental Retardation, X-linked, Syndromic, Bain Type XL 300986
Mental Retardation, X-Linked, Syndromic, Christianson Type XL 300243
Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type XL 300534
Mental Retardation, X-Linked, Syndromic, Hedera Type XL 300423
Mental Retardation, X-Linked, Syndromic, Wu Type XL 300699
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related XL 300419
Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait XL 300354
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 XL 309580
Merosin Deficient Congenital Muscular Dystrophy AR 607855
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration AR 616878
Metabolic Syndrome X AD 605552
Metachromatic Leukodystrophy AR 250100
Methemoglobinemia AR 250800
Methionine Adenosyltransferase I/III Deficiency AD 250850
Methylmalonate Semialdehyde Dehydrogenase Deficiency AR 614105
Methylmalonic Aciduria and Homocystinuria, cblC Type AR 277400
Methylmalonic Aciduria and Homocystinuria, cblD Type AR 277410
Mevalonic Aciduria AR 610377
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant AD 618564
Microcephaly 10, primary, autosomal recessive AR 615095
Microcephaly 15, primary, autosomal recessive AR 616486
Microcephaly 16, primary, autosomal recessive AR 616681
Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum AR 618284
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy AR 613668
Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy AR 615760
Microcephaly, seizures, spasticity, and brain calcification AR 251280
Microcephaly, short stature, and impaired glucose metabolism 2 AR 616817
Microcephaly, short stature, and polymicrogyria with seizures AR 614833
Microcephaly-capillary malformation syndrome AR 614261
Microhydranencephaly AR 605013
Microphthalmia Syndromic 3 AD 206900
Microvascular Complications Of Diabetes 5 612633
Mirror Movements, Congenital AD 157600
Mitchell syndrome AD 618960
Mitochondrial Complex I Deficiency AR 252010
Mitochondrial complex I deficiency, nuclear type 10 AR 618233
Mitochondrial complex I deficiency, nuclear type 11 AR 618234
Mitochondrial complex I deficiency, nuclear type 12 XL 301020
Mitochondrial complex I deficiency, nuclear type 13 AR 618235
Mitochondrial complex I deficiency, nuclear type 14 AR 618236
Mitochondrial complex I deficiency, nuclear type 15 AR 618237
Mitochondrial complex I deficiency, nuclear type 16 AR 618238
Mitochondrial complex I deficiency, nuclear type 17 AR 618239
Mitochondrial complex I deficiency, nuclear type 18 AR 618240
Mitochondrial complex I deficiency, nuclear type 19 AR 618241
Mitochondrial complex I deficiency, nuclear type 2 AR 618222
Mitochondrial complex I deficiency, nuclear type 21 AR 618242
Mitochondrial complex I deficiency, nuclear type 22 AR 618243
Mitochondrial complex I deficiency, nuclear type 23 AR 618244
Mitochondrial complex I deficiency, nuclear type 24 AR 618245
Mitochondrial complex I deficiency, nuclear type 25 AR 618246
Mitochondrial complex I deficiency, nuclear type 26 AR 618247
Mitochondrial complex I deficiency, nuclear type 28 AR 618249
Mitochondrial complex I deficiency, nuclear type 3 AR 618224
Mitochondrial complex I deficiency, nuclear type 31 AR 618251
Mitochondrial complex I deficiency, nuclear type 4 AR 618225
Mitochondrial complex I deficiency, nuclear type 5 AR 618226
Mitochondrial complex I deficiency, nuclear type 6 AR 618228
Mitochondrial complex I deficiency, nuclear type 7 AR 618229
Mitochondrial complex I deficiency, nuclear type 8 AR 618230
Mitochondrial complex I deficiency, nuclear type 9 AR 618232
Mitochondrial Complex II Deficiency AR 252011
Mitochondrial Complex III Deficiency AR 124000
Mitochondrial complex III deficiency, nuclear type 10 AR 618775
Mitochondrial Complex III Deficiency, Nuclear Type 2 AR 615157
Mitochondrial Complex III Deficiency, Nuclear Type 3 AR 615158
Mitochondrial Complex III Deficiency, Nuclear Type 4 AR 615159
Mitochondrial Complex III Deficiency, Nuclear Type 5 AR 615160
Mitochondrial Complex III Deficiency, Nuclear Type 6 AR 615453
Mitochondrial Complex III Deficiency, Nuclear Type 7 AR 615824
Mitochondrial Complex III Deficiency, Nuclear Type 8 AR 615838
Mitochondrial Complex III Deficiency, Nuclear Type 9 AR 616111
Mitochondrial Complex IV Deficiency AR 220110
Mitochondrial complex IV deficiency, nuclear type 10 AR 619053
Mitochondrial complex IV deficiency, nuclear type 11 AR 619054
Mitochondrial complex IV deficiency, nuclear type 12 AR 619055
Mitochondrial complex IV deficiency, nuclear type 14 AR 619058
Mitochondrial complex IV deficiency, nuclear type 15 AR 619059
Mitochondrial complex IV deficiency, nuclear type 17 AR 619061
Mitochondrial complex IV deficiency, nuclear type 21 AR 619065
Mitochondrial complex IV deficiency, nuclear type 3 619046
Mitochondrial complex IV deficiency, nuclear type 4 AR 619048
Mitochondrial complex IV deficiency, nuclear type 7 AR 619051
Mitochondrial complex IV deficiency, nuclear type 8 AR 619052
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1 AR 604273
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2 AR 614052
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3 AR 614053
Mitochondrial DNA depletion syndrome 11 AR 615084
Mitochondrial DNA Depletion Syndrome 12 (Cardiomyopathic Type) AR 615418
Mitochondrial DNA Depletion Syndrome 12A (Cardiomyopathic Type) AD AD 617184
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) AR 615471
Mitochondrial DNA Depletion Syndrome 14 (Encephalocardiomyopathic Type) AR 616896
Mitochondrial DNA depletion syndrome 16 (hepatic type) AR 618528
Mitochondrial DNA Depletion Syndrome 4B, Mngie Type AR 613662
Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic with or without Methylmalonic Aciduria) AR 612073
Mitochondrial DNA Depletion Syndrome 7 AR 271245
Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy AR 612075
Mitochondrial myopathy with lactic acidosis AR 251950
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome AR 603041
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency AR 616277
Mohr-Tranebjaerg Syndrome XL 304700
Molybdenum Cofactor Deficiency Type A AR 252150
Molybdenum Cofactor Deficiency Type B AR 252160
Mononeuropathy Of The Median Nerve, Mild AD 613353
Monosomy 7 myelodysplasia and leukemia syndrome 1 AD 252270
MORM Syndrome AR 610156
Mucopolysaccharidosis, MPS-III-B AR 252920
Mucopolysaccharidosis, MPS-IV-B AR 253010
Multiple Carboxylase Deficiency, Juvenile Onset AR 253260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome AR 614080
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 XL 300868
Multiple Mitochondrial Dysfunctions Syndrome 2 AR 614299
Multiple Mitochondrial Dysfunctions Syndrome 3 AR 615330
Multiple Mitochondrial Dysfunctions Syndrome 4 AR 616370
Multiple Sulfatase Deficiency AR 272200
Multiple system atrophy, susceptibility to AD 146500
Muscle Eye Brain Disease AR 253280
Muscular dystrophy, limb-girdle, autosomal recessive 23 AR 618138
Muscular dystrophy, limb-girdle, type 2S AR 615356
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 AR 615249
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 AR 615287
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 AR 615350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 AR 613150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 AR 613154
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 AR 614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1 AR 613155
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 AR 615351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 2 AR 613156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3 AR 613151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 6 AR 608840
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Mental Retardation), Type B, 4 AR 613152
Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 AR 618135
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 AR 609308
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 AR 616094
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 AR 615352
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 AR 613158
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 AR 613157
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 AR 611588
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 AR 607155
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 AR 616052
Myasthenic Syndrome, Congenital, 17 AR 616304
Myasthenic Syndrome, Congenital, 18 AD 616330
Myasthenic syndrome, congenital, 25 AR 618323
Myasthenic Syndrome, Congenital, 7, Presynaptic AD 616040
Myeloproliferative Disorder, Chronic, With Eosinophilia AD 131440
Myhre Syndrome AD 139210
Myocardial Infarction 1 608446
Myoclonic Dystonia AD 159900
Myoclonic Epilepsy, Familial Infantile AR 605021
Myoclonic-Atonic Epilepsy AD 616421
Myoclonus, familial, 1 AD 614937
Myoclonus, familial, 2 AD 618364
Myoclonus, Intractable, Neonatal AD 617235
Myofibrillar Myopathy, Filamin C-Related AD 609524
Myofibromatosis, Infantile, 1 AD 228550
Myofibromatosis, Infantile, 2 AD 615293
Myopathy with Extrapyramidal Signs AR 615673
Myopathy, Centronuclear, 1 AD 160150
Myopathy, congenital, with tremor AD 618524
Myopathy, Distal, 2 AD 606070
Myopathy, Distal, 4 AD 614065
Myopathy, distal, with rimmed vacuoles AD 617158
Myopathy, isolated mitochondrial, autosomal dominant AD 616209
Myopathy, myofibrillar, 7 AR 617114
Myopathy, myofibrillar, 8 AR 617258
Myopia 6 AD 608908
N-Acetylaspartate Deficiency AR 614063
Navajo Neurohepatopathy AR 256810
Nemaline Myopathy 4 AD 609285
Neoplasm Of Ovary 167000
Nephronophthisis AR 256100
Nephronophthisis 11 AR 613550
Nephronophthisis 12 AD 613820
Nephronophthisis 14 AD 614844
Nephronophthisis-Like Nephropathy 1 AR 613159
Nephrotic Syndrome, Type 14 AR 617575
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities 614199
Neu-Laxova syndrome 1 AR 256520
Neu-Laxova syndrome 2 AR 616038
Neuroblastoma 1 AD 256700
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset AR 617145
Neurodegeneration With Brain Iron Accumulation 1 AR 234200
Neurodegeneration With Brain Iron Accumulation 2B AR 610217
Neurodegeneration With Brain Iron Accumulation 4 AD 614298
Neurodegeneration With Brain Iron Accumulation 5 XL 300894
Neurodegeneration With Brain Iron Accumulation 6 AR 615643
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures AR 618170
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline AR 618868
Neurodegeneration, childhood-onset, with brain atrophy AD 617672
Neurodegeneration, childhood-onset, with cerebellar atrophy AR 618276
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity AR 618890
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly AR 618569
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities AR 619121
Neurodevelopmental disorder with central and peripheral motor dysfunction AR 618356
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures AR 618056
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity AR 618572
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy AR 618741
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness AR 617519
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia AR 618292
Neurodevelopmental disorder with impaired speech and hyperkinetic movements AR 618425
Neurodevelopmental Disorder with Involuntary Movements AD 617493
Neurodevelopmental disorder with microcephaly, ataxia, and seizures AR 617709
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities AR 617913
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity AR 618730
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive AR 617820
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies AR 617527
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities AR 619026
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures AD 618088
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements AR 618497
Neurodevelopmental disorder with seizures and speech and walking impairment AR 618480
Neurodevelopmental disorder with spasticity and poor growth AR 618076
Neurodevelopmental disorder with visual defects and brain anomalies AD 618547
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures AR 617710
Neuroferritinopathy AD 606159
Neurofibromatosis, Familial Spinal AD 162210
Neurofibromatosis, Type 1 AD 162200
Neurofibromatosis, Type 2 AD 101000
Neurofibromatosis-Noonan Syndrome AD 601321
Neuronopathy, Distal Hereditary Motor, Type VIIB AD 607641
Neuronopathy, Distal Hereditary Motor, Type VB AD 614751
Neuropathy, distal hereditary motor, type VC AD 619112
Neuropathy, Hereditary Motor and Sensory, Okinawa Type AD 604484
Neuropathy, Hereditary Motor and Sensory, Russe Type AR 605285
Neuropathy, Hereditary Motor and Sensory, Type VIA AD 601152
Neuropathy, Hereditary Motor and Sensory, Type VIB AR 616505
Neuropathy, Hereditary Sensory And Autonomic, Type IC AD 613640
Neuropathy, Hereditary Sensory And Autonomic, Type IIA AR 201300
Neuropathy, Hereditary Sensory And Autonomic, Type IIB AR 613115
Neuropathy, Hereditary Sensory, Type ID AD 613708
Neuropathy, Hereditary Sensory, Type IE AD 614116
Neuropathy, Hereditary Sensory, Type IIC AR 614213
Neuropathy, Hereditary Sensory, With Spastic Paraplegia AR 256840
Neuropathy, inflammatory demyelinating 139393
Niemann-Pick Disease Type C1 AR 257220
Niemann-Pick Disease Type C2 AR 607625
Niemann-Pick Disease, Type A AR 257200
Niemann-Pick Disease, Type B AR 607616
Nijmegen Breakage Syndrome-Like Disorder 613078
Occipital Horn Syndrome XL 304150
Oculodentodigital Dysplasia AD 164200
Oculodentodigital Dysplasia, Autosomal Recessive AR 257850
Oculofaciocardiodental Syndrome XL 300166
Oliver-McFarlane syndrome AR 275400
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures AR 616732
Optic atrophy 11 AR 617302
Optic atrophy 12 AD 618977
Optic atrophy 5 AD 610708
Optic atrophy 9 AR 616289
Optic Atrophy And Cataract, Autosomal Dominant AD 165300
Optic Atrophy Type 1 AD 125250
Oral-Facial-Digital Syndrome XL 311200
Ornithine Carbamoyltransferase Deficiency XL 311250
Orofaciodigital Syndrome IV AR 258860
Orofaciodigital syndrome VI AR 277170
Orofaciodigital Syndrome XVI AR 617563
Osteoglophonic Dysplasia AD 166250
Oto-Palato-Digital Syndrome Type 1 XL 311300
Oto-Palato-Digital Syndrome, Type II XL 304120
Ovarian dysgenesis 7 AR 618117
Paget Disease of Bone 3 AD 167250
Palmoplantar keratoderma with congenital alopecia AD 104100
Pancreatic agenesis 2 AR 615935
Pancreatic Cancer 260350
Paraganglioma And Gastric Stromal Sarcoma 606864
Paragangliomas 1 AD 168000
Paragangliomas 4 AD 115310
Paragangliomas 5 AD 614165
Parkinson Disease 1 AD 168601
Parkinson Disease 11 607688
Parkinson Disease 13 610297
Parkinson Disease 14 AR 612953
Parkinson Disease 15 AR 260300
Parkinson Disease 17 AD 614203
Parkinson Disease 18 AD 614251
Parkinson Disease 19 AR 615528
Parkinson Disease 2 AR 600116
Parkinson Disease 20 AR 615530
Parkinson disease 23, autosomal recessive, early onset AR 616840
Parkinson Disease 4 AD 605543
Parkinson Disease 5 AD 613643
Parkinson Disease 6, Autosomal Recessive Early-Onset AR 605909
Parkinson Disease 7 AR 606324
Parkinson Disease 8 AD 607060
Parkinson's Disease AD 168600
Parkinson-Dementia Syndrome AR 260540
Parkinsonism with Spasticity, X-Linked XL 300911
Parkinsonism-dystonia, infantile, 2 AR 618049
Paroxysmal Choreoathetosis AD 118800
Paroxysmal Extreme Pain Disorder AD 167400
Paroxysmal Nocturnal Hemoglobinuria 300818
Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome AD 606721
Partington X-Linked Mental Retardation Syndrome XL 309510
PEHO syndrome AR 260565
Pelizaeus-Merzbacher Disease XL 312080
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease AD 609136
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss AD 614369
Peroxisomal Acyl-CoA Oxidase Deficiency AR 264470
Peroxisomal fatty acyl-CoA reductase 1 disorder AR 616154
Peroxisome biogenesis disorder 10A (Zellweger) AR 614882
Peroxisome biogenesis disorder 10B AR 617370
Peroxisome biogenesis disorder 11A (Zellweger) AR 614883
Peroxisome biogenesis disorder 11B AR 614885
Peroxisome biogenesis disorder 12A (Zellweger) AR 614886
Peroxisome biogenesis disorder 13A (Zellweger) AR 614887
Peroxisome Biogenesis Disorder 14B AR 614920
Peroxisome biogenesis disorder 1A (Zellweger) AR 214100
Peroxisome biogenesis disorder 1B (NALD/IRD) AR 601539
Peroxisome biogenesis disorder 2A (Zellweger) AR 214110
Peroxisome biogenesis disorder 2B AR 202370
Peroxisome biogenesis disorder 3A (Zellweger) AR 614859
Peroxisome biogenesis disorder 3B AR 266510
Peroxisome biogenesis disorder 4A (Zellweger) AR 614862
Peroxisome biogenesis disorder 4B AD 614863
Peroxisome biogenesis disorder 5A (Zellweger) AR 614866
Peroxisome biogenesis disorder 5B AR 614867
Peroxisome biogenesis disorder 6A (Zellweger) AR 614870
Peroxisome biogenesis disorder 6B AR 614871
Peroxisome biogenesis disorder 7A (Zellweger) AR 614872
Peroxisome biogenesis disorder 7B AR 614873
Peroxisome biogenesis disorder 8A, (Zellweger) AR 614876
Peroxisome biogenesis disorder 8B AR 614877
Peroxisome Biogenesis Disorder 9B AR 614879
Perrault Syndrome AR