ClinVar Miner

Variants from Institute of Human Genetics Munich, TUM University Hospital

Location: Germany  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
1625 719 3 0 0 7 2353

Gene and significance breakdown #

Total genes and gene combinations: 1008
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
PHEX 64 0 1 0 65
COL4A5 39 13 0 0 52
PHEX, PTCHD1 41 1 0 0 42
COL4A3, MFF-DT 8 22 0 0 30
NR0B1 21 0 0 0 21
COL4A4 5 13 0 0 18
CASD1, SGCE 12 4 0 0 16
POLG 11 3 0 0 14
RYR1 9 5 0 0 14
FBN1 10 3 0 0 13
KMT2B 8 5 0 0 13
MECP2 9 4 0 0 13
SLC34A3 11 2 0 0 13
GRN 11 1 0 0 12
MYBPC3 9 3 0 0 12
PDHA1 7 5 0 0 12
PTPN11 8 3 0 0 11
ANKRD11 9 1 0 0 10
KMT2D 7 3 0 0 10
LDLR 4 5 0 0 9
MTO1 4 5 0 0 9
SPAST 8 1 0 0 9
TTN 3 6 0 0 9
ATP1A3 5 3 0 0 8
COL4A1 5 3 0 0 8
ECHS1 6 2 0 0 8
FOXG1 4 4 0 0 8
NF1 5 3 0 0 8
PKHD1 4 4 0 0 8
SCN2A 6 2 0 0 8
SLC2A1 6 2 0 0 8
TNR 5 2 1 0 8
AFG2B 4 3 0 0 7
ATM 6 1 0 0 7
CACNA1A 3 4 0 0 7
CHD7 4 3 0 0 7
FBXL4 4 3 0 0 7
GCH1 2 5 0 0 7
LOC102724058, SCN1A 6 1 0 0 7
NPC1 4 3 0 0 7
PIGN 4 3 0 0 7
PTEN 5 2 0 0 7
SCN8A 3 4 0 0 7
SNF8 7 0 0 0 7
SPG11 6 1 0 0 7
AARS2 3 3 0 0 6
ADCY5 3 3 0 0 6
ARSA 4 2 0 0 6
ASXL3 5 1 0 0 6
CHD3 3 3 0 0 6
ENPP1 6 0 0 0 6
GBA1, LOC106627981 6 0 0 0 6
GH-LCR, SCN4A 5 1 0 0 6
KCNQ2 3 3 0 0 6
KIF1A 4 2 0 0 6
MAPT 4 2 0 0 6
NPHS2 5 1 0 0 6
PLA2G6 5 1 0 0 6
PSEN1 4 2 0 0 6
PURA 3 3 0 0 6
SCN1A 5 1 0 0 6
SPG7 6 0 0 0 6
STXBP1 4 2 0 0 6
TBCD 1 5 0 0 6
TBK1 6 0 0 0 6
TNNI3 3 3 0 0 6
ZEB2 4 2 0 0 6
ACTB 3 2 0 0 5
ALS2 5 0 0 0 5
ANO5 5 0 0 0 5
ARID1B 5 0 0 0 5
ATM, C11orf65 3 2 0 0 5
BCL11B 3 2 0 0 5
C19orf12 4 1 0 0 5
CCDST, FLG 3 2 0 0 5
CDKL5 4 1 0 0 5
CHD8 2 3 0 0 5
COL2A1 5 0 0 0 5
COQ8A 2 3 0 0 5
DDX3X 5 0 0 0 5
DMD 3 2 0 0 5
FA2H 2 3 0 0 5
FARSB 5 0 0 0 5
FGF23 5 0 0 0 5
GJB1 3 2 0 0 5
KAT6A 4 1 0 0 5
LOC130062794, TXNL4A 5 0 0 0 5
MFN2 1 4 0 0 5
NEB 5 0 0 0 5
PBX1 5 0 0 0 5
POLR3A 5 0 0 0 5
PTPRA, VPS16 2 3 0 0 5
RALGAPA1 0 0 0 5 5
SATB2 3 2 0 0 5
SYNE1 4 1 0 0 5
TBC1D24 4 1 0 0 5
THAP1 3 2 0 0 5
TRIO 1 4 0 0 5
USP8 5 0 0 0 5
WARS2 3 2 0 0 5
ABCA4 3 1 0 0 4
AFG2A 2 2 0 0 4
ANO3 1 3 0 0 4
ARID2 2 2 0 0 4
BRAF 3 1 0 0 4
CSNK2B 3 1 0 0 4
CYFIP2 3 1 0 0 4
DYNC1H1 1 3 0 0 4
ELAC2 2 2 0 0 4
EYA1 4 0 0 0 4
GNAO1 3 1 0 0 4
GRIN2B 2 2 0 0 4
GTPBP3 1 3 0 0 4
HEXA 4 0 0 0 4
KAT6B 4 0 0 0 4
KCNH2 2 2 0 0 4
KMT2A 4 0 0 0 4
LMX1B 3 1 0 0 4
LOC130068043, PHEX, PTCHD1 4 0 0 0 4
MAG 2 2 0 0 4
MC2R 4 0 0 0 4
MMUT 2 2 0 0 4
MRE11 1 3 0 0 4
MYH7 4 0 0 0 4
PANK2 4 0 0 0 4
PKD1 4 0 0 0 4
PNPLA6 3 1 0 0 4
PRKN 4 0 0 0 4
RHOBTB2 4 0 0 0 4
SATB1 2 2 0 0 4
SETD5 4 0 0 0 4
SLC6A8 3 1 0 0 4
SYNGAP1 2 2 0 0 4
TH 2 2 0 0 4
THOC6 4 0 0 0 4
TSC2 3 1 0 0 4
VARS2 1 3 0 0 4
VCP 3 1 0 0 4
WDR45 2 2 0 0 4
ZNF142 2 2 0 0 4
AARS1 2 1 0 0 3
ACTA1 2 1 0 0 3
ADA2 3 0 0 0 3
ADAR 2 1 0 0 3
AFG3L2 0 3 0 0 3
AHDC1 3 0 0 0 3
AP1G1 3 0 0 0 3
ASXL1 3 0 0 0 3
ATL1 2 1 0 0 3
ATP1A1 3 0 0 0 3
ATP2B3 3 0 0 0 3
AUTS2 2 1 0 0 3
BRCA2 3 0 0 0 3
CAD 2 1 0 0 3
CAPN3 2 1 0 0 3
CFTR 3 0 0 0 3
CLCN1 3 0 0 0 3
CLCN5 3 0 0 0 3
COMP 2 1 0 0 3
COQ4 2 1 0 0 3
COQ6, ENTPD5 2 1 0 0 3
CYP24A1 1 2 0 0 3
DHCR7 3 0 0 0 3
DNM1L 1 2 0 0 3
DSP 2 1 0 0 3
DYRK1A 3 0 0 0 3
DYSF 3 0 0 0 3
ENG 2 1 0 0 3
EPG5 3 0 0 0 3
ERCC4 2 1 0 0 3
ERCC8 3 0 0 0 3
ETHE1 3 0 0 0 3
FARS2 2 1 0 0 3
FBXO11 2 1 0 0 3
FGFR1 2 1 0 0 3
FKRP 3 0 0 0 3
FLNA 3 0 0 0 3
FLNB 3 0 0 0 3
GAA 2 1 0 0 3
GABRA1 1 2 0 0 3
GCDH 3 0 0 0 3
GCK 1 2 0 0 3
GJB2 3 0 0 0 3
GLRA1 1 2 0 0 3
GNB1 2 1 0 0 3
GRIA2 1 2 0 0 3
GRIN2A 1 2 0 0 3
GRN, LOC125177489 3 0 0 0 3
HBB, LOC106099062, LOC107133510 3 0 0 0 3
IFT140 2 2 0 0 3
INF2 0 3 0 0 3
KIF11 2 1 0 0 3
KRIT1 3 0 0 0 3
LAMP2 2 1 0 0 3
LMNA 0 3 0 0 3
LOC126861898, MYH7 1 2 0 0 3
MARS1 3 0 0 0 3
MBD5 1 2 0 0 3
MRAP 3 0 0 0 3
MTM1 3 0 0 0 3
MVK 2 1 0 0 3
NALCN 1 2 0 0 3
NDUFS4 3 0 0 0 3
NFIX 2 1 0 0 3
NGLY1 3 0 0 0 3
NKX2-1, SFTA3 2 1 0 0 3
NOTCH3 1 2 0 0 3
NSD1 3 0 0 0 3
OPA1 3 0 0 0 3
PAX2 2 1 0 0 3
PEX6 3 0 0 0 3
PPP2CA 2 1 0 0 3
PPP2R5D 3 0 0 0 3
PUF60 3 0 0 0 3
RARS2 2 1 0 0 3
RYR2 0 3 0 0 3
SBDS 2 1 0 0 3
SCN5A 1 2 0 0 3
SDR9C7 3 0 0 0 3
SETBP1 1 2 0 0 3
SETD1A 2 1 0 0 3
SETX 3 0 0 0 3
SH3TC2 3 0 0 0 3
SLC13A5 3 0 0 0 3
SLC6A1 2 1 0 0 3
SMARCA4 2 1 0 0 3
SOD1 2 1 0 0 3
SOS1 1 2 0 0 3
SOX11 2 1 0 0 3
SPTBN2 1 2 0 0 3
STAG2 2 1 0 0 3
STUB1 1 2 0 0 3
SURF1 3 0 0 0 3
TBL1XR1 2 1 0 0 3
TCF20 2 1 0 0 3
TGFBR1 0 3 0 0 3
TGFBR2 3 0 0 0 3
TMEM70 2 1 0 0 3
TRMU 2 1 0 0 3
TUBB2A 2 1 0 0 3
TUBB4A 1 2 0 0 3
UMOD 3 0 0 0 3
UPF3B 2 1 0 0 3
UQCRFS1 2 0 0 1 3
USP9X 1 2 0 0 3
VARS1 2 1 0 0 3
VPS16 2 1 0 0 3
WDR73 3 0 0 0 3
WFS1 3 0 0 0 3
ABCD4 0 2 0 0 2
ACADM 1 1 0 0 2
ACADVL 2 0 0 0 2
ADPRS 1 1 0 0 2
AGK 1 1 0 0 2
AGL 2 0 0 0 2
ALDH18A1 1 1 0 0 2
ALDH7A1 0 2 0 0 2
ALPK3 1 1 0 0 2
AMOTL1 1 1 0 0 2
ANK2 0 2 0 0 2
ANO10 2 0 0 0 2
APOB 2 0 0 0 2
ARHGEF9 2 0 0 0 2
ATP7B 2 0 0 0 2
BBS1, ZDHHC24 2 0 0 0 2
BBS10 2 0 0 0 2
BBS12 2 0 0 0 2
BCOR 2 0 0 0 2
BRAT1 1 1 0 0 2
BRCA1 2 0 0 0 2
BTD 2 0 0 0 2
CACNA1E 1 1 0 0 2
CACNA1S 2 0 0 0 2
CALM2 2 0 0 0 2
CAMK2A 1 1 0 0 2
CAMTA1 2 0 0 0 2
CAST, LOC101929710, PCSK1 0 2 0 0 2
CDAN1 1 1 0 0 2
CHD2 1 1 0 0 2
CHD4 1 1 0 0 2
CHEK2 2 0 0 0 2
CHRNG 0 2 0 0 2
CLCN2 2 0 0 0 2
CLCN4 0 2 0 0 2
CLN3 2 0 0 0 2
CNNM2 2 0 0 0 2
CNOT1 1 1 0 0 2
CNOT3 1 1 0 0 2
CNTNAP1 1 1 0 0 2
COL11A2 1 1 0 0 2
COL27A1 2 0 0 0 2
COL3A1 0 2 0 0 2
COQ2 2 0 0 0 2
COX10 1 1 0 0 2
CPLANE1 1 1 0 0 2
CSDE1 0 2 0 0 2
CTCF 0 2 0 0 2
CTNNB1 2 0 0 0 2
CTNNB1, LOC126806659 2 0 0 0 2
CWF19L1 1 1 0 0 2
CYP21A2, LOC106780800 2 0 0 0 2
CYP7B1 2 0 0 0 2
DARS2 2 0 0 0 2
DEPDC5 2 0 0 0 2
DES 1 1 0 0 2
DGUOK 2 0 0 0 2
DHCR24 0 2 0 0 2
DHDDS 2 0 0 0 2
DMP1 2 0 0 0 2
DNAH11 1 1 0 0 2
DNAI1 1 1 0 0 2
DNMT1 0 2 0 0 2
DONSON 1 1 0 0 2
DYNC2H1 0 2 0 0 2
EARS2 2 0 0 0 2
EBF3 0 2 0 0 2
ECM1 1 1 0 0 2
EDA 1 1 0 0 2
EFNB1 2 0 0 0 2
EHMT1 2 0 0 0 2
EIF2B2 1 1 0 0 2
EVC 2 0 0 0 2
EXOSC3 2 0 0 0 2
FA2H, LOC130059394 1 1 0 0 2
FBXO7 2 0 0 0 2
FDXR 2 0 0 0 2
FH 1 1 0 0 2
FHOD3 1 1 0 0 2
FLNC 1 1 0 0 2
FOXP1 2 0 0 0 2
FOXP2 2 0 0 0 2
FUS 2 0 0 0 2
GFAP 2 0 0 0 2
GFM1 2 0 0 0 2
GJA1 2 0 0 0 2
GLB1 2 0 0 0 2
GLDC 1 1 0 0 2
GLDN 1 1 0 0 2
GNAL 0 2 0 0 2
GNRHR 2 0 0 0 2
GRIN1 1 1 0 0 2
GSN 2 0 0 0 2
GUCY2D 2 0 0 0 2
HECW2 0 2 0 0 2
HIBCH 0 2 0 0 2
HMGCS2 2 0 0 0 2
HNF1B 0 2 0 0 2
HNRNPH2, RPL36A-HNRNPH2 1 1 0 0 2
HNRNPU 1 1 0 0 2
HSD17B10 1 1 0 0 2
HUWE1 1 1 0 0 2
IHH 1 1 0 0 2
ITPA 1 1 0 0 2
JMJD8, STUB1 2 0 0 0 2
KCNMA1 1 1 0 0 2
KDM3B 1 1 0 0 2
KDM6A 1 1 0 0 2
KITLG 0 2 0 0 2
KMT2C 2 0 0 0 2
L1CAM 1 1 0 0 2
LAMA2 1 1 0 0 2
LAMB3 2 0 0 0 2
LIPT2 2 0 0 0 2
LOC121740638, TFAP2A 2 0 0 0 2
LOC126859827, TAB2 1 1 0 0 2
LOC126861897, MHRT, MYH7 1 1 0 0 2
LOX, SRFBP1 0 2 0 0 2
MAP2K1 2 0 0 0 2
MAP2K2 1 1 0 0 2
MAPK8IP3 2 0 0 0 2
MCM7 2 0 0 0 2
MDH2 0 2 0 0 2
MECR 2 0 0 0 2
MED13L 1 1 0 0 2
MEFV 2 0 0 0 2
MMACHC 1 1 0 0 2
MMP21 1 1 0 0 2
MOGS 1 1 0 0 2
MORC2 1 1 0 0 2
MPZ 2 0 0 0 2
MSL3 1 1 0 0 2
MVP-DT, PRRT2 1 1 0 0 2
NAA15 2 0 0 0 2
NARS1 1 1 0 0 2
NARS2 1 1 0 0 2
NBEA 1 1 0 0 2
NCAPH2, SCO2 2 0 0 0 2
NDUFS8 0 2 0 0 2
NFIA 1 1 0 0 2
NFU1 2 0 0 0 2
NPHS1 1 1 0 0 2
NPRL2 0 2 0 0 2
NUS1 1 1 0 0 2
OTOG 2 0 0 0 2
OTOGL 1 1 0 0 2
PCDH12, RNF14 1 1 0 0 2
PCK1 1 1 0 0 2
PDE10A 1 1 0 0 2
PEPD 2 0 0 0 2
PEX1 1 1 0 0 2
PHKA2 1 1 0 0 2
PIBF1 1 1 0 0 2
PIGA 1 1 0 0 2
PIGG 1 1 0 0 2
PIK3CA 1 1 0 0 2
PKP2 2 0 0 0 2
PNKP 2 0 0 0 2
POGZ 2 0 0 0 2
POMT1 2 0 0 0 2
PORCN 0 2 0 0 2
POU3F3 1 1 0 0 2
PPP2R1A 1 1 0 0 2
PRKACA 2 0 0 0 2
PRR12 1 1 0 0 2
PTCH1 2 0 0 0 2
RAD21 1 1 0 0 2
RAF1 2 0 0 0 2
RBP3 0 2 0 0 2
RIT1 0 2 0 0 2
RNF216 2 0 0 0 2
SACS 1 1 0 0 2
SALL1 2 0 0 0 2
SCLT1 1 1 0 0 2
SERAC1 1 1 0 0 2
SFXN4 2 0 0 0 2
SGCA 2 0 0 0 2
SLC25A12 1 1 0 0 2
SLC25A42 2 0 0 0 2
SLC26A3 1 1 0 0 2
SLC26A4 1 1 0 0 2
SLC37A4 2 0 0 0 2
SLC9A6 1 1 0 0 2
SMAD4 2 0 0 0 2
SMARCA2 2 0 0 0 2
SMARCA5 2 0 0 0 2
SMC1A 2 0 0 0 2
SOX6 1 1 0 0 2
SOX9 1 1 0 0 2
SPR 0 2 0 0 2
STX1B 1 1 0 0 2
TAFAZZIN 0 2 0 0 2
TAOK1 1 1 0 0 2
TARS2 0 2 0 0 2
TBCEL-TECTA, TECTA 1 1 0 0 2
TBCK 2 0 0 0 2
TBR1 2 0 0 0 2
TBX19 2 0 0 0 2
TBX5 2 0 0 0 2
TCF4 2 0 0 0 2
TFE3 1 1 0 0 2
TIMM50 2 0 0 0 2
TMEM67 2 0 0 0 2
TNNT2 0 2 0 0 2
TPK1 1 1 0 0 2
TPP1 1 1 0 0 2
TRPS1 1 1 0 0 2
TRPV4 1 1 0 0 2
TUBA1A 2 0 0 0 2
TUBB 0 2 0 0 2
TWNK 2 0 0 0 2
UBE3B 2 0 0 0 2
UFC1 1 1 0 0 2
UGDH 0 2 0 0 2
UNC80 2 0 0 0 2
VPS13B 1 1 0 0 2
VPS13D 1 1 0 0 2
WT1 1 1 0 0 2
YWHAG 1 1 0 0 2
YY1 1 1 0 0 2
YY1AP1 2 0 0 0 2
ZBTB18 0 2 0 0 2
ZC4H2 2 0 0 0 2
ZMYM2 0 2 0 0 2
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 1 0 0 0 1
ABCC8 0 1 0 0 1
ABCC9 1 0 0 0 1
ABCD1, PLXNB3 0 1 0 0 1
ABHD14A-ACY1, ACY1 0 1 0 0 1
ABHD5 1 0 0 0 1
ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CAMTA1, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ESPN, FAAP20, FNDC10, GABRD, GNB1, GPR153, HES2, HES3, HES4, HES5, ICMT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF207, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM278, TMEM52, TNFRSF14, TNFRSF18, TNFRSF25, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73, ZBTB48 0 1 0 0 1
ACR, RABL2B, SHANK3 1 0 0 0 1
ACSL5, CASP7, DCLRE1A, GPAM, HABP2, NHLRC2, NRAP, PLEKHS1, TCF7L2, TECTB, VTI1A, ZDHHC6 1 0 0 0 1
ACTA2 1 0 0 0 1
ACTC1, GJD2-DT 0 1 0 0 1
ACTG1 0 1 0 0 1
ACTG1, LOC130061940 0 1 0 0 1
ACTG2 0 1 0 0 1
ACVR1 1 0 0 0 1
ADAM30, ATP1A1, CD101, CD2, CD58, FAM72B, GDAP2, HAO2, HMGCS2, HSD3B1, HSD3B2, IGSF3, MAB21L3, MAN1A2, NOTCH2, PHGDH, PTGFRN, REG4, SPAG17, SRGAP2C, TBX15, TENT5C, TENT5C-DT, TRIM45, TTF2, VTCN1, WARS2, WDR3, ZNF697 1 0 0 0 1
ADAMTS13 1 0 0 0 1
ADAMTSL4 1 0 0 0 1
ADNP2, ATP9B, CTDP1, GALR1, HSBP1L1, KCNG2, LINC00683, LINC01879, LOC130062794, MBP, NFATC1, PARD6G, RBFA, SALL3, SLC66A2, TXNL4A, ZNF236, ZNF516 1 0 0 0 1
ADNP2, ATP9B, CTDP1, HSBP1L1, KCNG2, LOC130062794, NFATC1, PARD6G, RBFA, SLC66A2, TXNL4A 1 0 0 0 1
ADNP2, CTDP1, HSBP1L1, KCNG2, LOC130062794, RBFA, SLC66A2, TXNL4A 1 0 0 0 1
ADSL 1 0 0 0 1
AFF3 0 1 0 0 1
AGO1 1 0 0 0 1
AGO2 1 0 0 0 1
AGT 1 0 0 0 1
AHI1 1 0 0 0 1
AIPL1 0 1 0 0 1
AKT3 0 1 0 0 1
ALMS1 1 0 0 0 1
AMPD2 1 0 0 0 1
AP4S1 1 0 0 0 1
APC 1 0 0 0 1
APP 1 0 0 0 1
ARF1 0 1 0 0 1
ARL17A, ARL17B, CRHR1, KANSL1, LRRC37A, LRRC37A2, MAPT, SPPL2C, STH 1 0 0 0 1
ARR3 1 0 0 0 1
ARSL 0 1 0 0 1
ASB4, BET1, CASD1, COL1A2, DYNC1I1, GNG11, GNGT1, PDK4, PEG10, PON1, PON2, PON3, PPP1R9A, SGCE, TFPI2 1 0 0 0 1
ASTN2, TRIM32 1 0 0 0 1
ATG7 1 0 0 0 1
ATP1A2 1 0 0 0 1
ATP2A2 0 1 0 0 1
ATP5MC3 0 1 0 0 1
ATP5PO 1 0 0 0 1
ATP5PO, LOC130066573 1 0 0 0 1
ATP6V1A 1 0 0 0 1
ATP6V1E1 1 0 0 0 1
ATP7A 1 0 0 0 1
ATP8A2 1 0 0 0 1
ATXN7L3, UBTF 1 0 0 0 1
B3GALNT2 1 0 0 0 1
BAG3 0 1 0 0 1
BBS7 1 0 0 0 1
BCAP31 1 0 0 0 1
BCL2L2-PABPN1, PABPN1 1 0 0 0 1
BCS1L 1 0 0 0 1
BEGAIN, DEGS2, EML1, EVL, SLC25A29, SLC25A47, WARS1, WDR25, YY1 1 0 0 0 1
BEST1 1 0 0 0 1
BEST1, FTH1 0 1 0 0 1
BFSP2 1 0 0 0 1
BICD2 0 1 0 0 1
BNIPL, PRUNE1 1 0 0 0 1
BOLA3 0 1 0 0 1
BRRIAR, ITPR1 0 1 0 0 1
BSCL2, HNRNPUL2-BSCL2 1 0 0 0 1
C16orf95, CIBAR2, CLMB, COX4I1, CRISPLD2, EMC8, FBXO31, FENDRR, FOXC2, FOXF1, FOXL1, GINS2, GSE1, IRF8, JPH3, KIAA0513, LINC01082, MAP1LC3B, MTHFSD, ZCCHC14, ZCCHC14-DT, ZDHHC7 1 0 0 0 1
C17orf107, CHRNE, MINK1 1 0 0 0 1
CA5A 1 0 0 0 1
CACNA1G 0 1 0 0 1
CAMK2B 1 0 0 0 1
CAPN5 1 0 0 0 1
CAV3, SSUH2 1 0 0 0 1
CBL 1 0 0 0 1
CBLIF 1 0 0 0 1
CBLL2, PHEX, PTCHD1 1 0 0 0 1
CCDC186 1 0 0 0 1
CCND2 0 1 0 0 1
CCNF 0 1 0 0 1
CCPG1, DNAAF4-CCPG1, PIGB 1 0 0 0 1
CD40LG 1 0 0 0 1
CDC42 0 1 0 0 1
CDK13 0 1 0 0 1
CDK8 1 0 0 0 1
CDKN2A 1 0 0 0 1
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 1
CELF2 1 0 0 0 1
CEP290 1 0 0 0 1
CEP290, LOC129390514 1 0 0 0 1
CEP85L, PLN 1 0 0 0 1
CERS1, GDF1 0 1 0 0 1
CFAP300 1 0 0 0 1
CFAP410 1 0 0 0 1
CHAMP1, LINC01054 1 0 0 0 1
CHAT 0 1 0 0 1
CHD7, LOC126860403 1 0 0 0 1
CHN1 0 1 0 0 1
CHRNE 0 1 0 0 1
CHRNE, LOC130060040 1 0 0 0 1
CLASP1, RNU4ATAC 1 0 0 0 1
CLCN7 0 1 0 0 1
CLDN11 1 0 0 0 1
CLPB 1 0 0 0 1
CLTC 0 1 0 0 1
CLUH, PAFAH1B1 1 0 0 0 1
COL11A1 1 0 0 0 1
COL12A1 1 0 0 0 1
COL13A1 0 1 0 0 1
COL1A1 1 0 0 0 1
COL1A2 1 0 0 0 1
COL4A1, LOC126861856 1 0 0 0 1
COL4A2 0 1 0 0 1
COL4A3 1 0 0 0 1
COL4A3, LOC129935730 1 0 0 0 1
COL6A1 0 1 0 0 1
COL6A3 0 1 0 0 1
COL9A3 0 1 0 0 1
COQ2, LOC112997540 0 1 0 0 1
COQ8B 1 0 0 0 1
COQ9 1 0 0 0 1
CP 1 0 0 0 1
CPS1 1 0 0 0 1
CPT2 1 0 0 0 1
CRIPT 1 0 0 0 1
CRYAA 1 0 0 0 1
CRYBA1 1 0 0 0 1
CRYL1, EEF1AKMT1, FGF9, GJA3, GJB2, GJB6, IFT88, IL17D, LATS2, MICU2, MPHOSPH8, MRPL57, PSPC1, SAP18, SKA3, TPTE2, TUBA3C, XPO4, ZDHHC20, ZMYM2, ZMYM5 1 0 0 0 1
CSF1R 0 1 0 0 1
CSNK2A1 0 1 0 0 1
CTNNB1, LOC126806658 1 0 0 0 1
CTSF 1 0 0 0 1
CUL3 1 0 0 0 1
CUL4B 1 0 0 0 1
CWC27 1 0 0 0 1
DAAM2 1 0 0 0 1
DCTN1 1 0 0 0 1
DDC 1 0 0 0 1
DDX23 0 1 0 0 1
DDX6 0 1 0 0 1
DEAF1 1 0 0 0 1
DGKE 1 0 0 0 1
DIP2C 1 0 0 0 1
DLG4 1 0 0 0 1
DLG4, LOC126862479 1 0 0 0 1
DLL1 0 1 0 0 1
DLL1, FAM120B, PDCD2, PSMB1, TBP 1 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, LOC121627963, LOC125446277, LOC126863234, LOC126863235, LOC126863236, LOC129391296, LOC129391297, LOC130068072, LOC130068073, LOC130068074, LOC130068075, LOC130068076, LOC130068077, LOC130068078, LOC130068079, LOC130068080, LOC130068081, LOC130068082, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR3915, MIR4666B, MIR6134, NR0B1, TAB3, TASL 1 0 0 0 1
DMD, FTHL17, GK, LOC108410393, LOC113875019, LOC116309149, LOC116309150, LOC121627963, LOC125446277, LOC126863236, LOC130068074, LOC130068075, LOC130068076, LOC130068077, LOC130068078, LOC130068079, LOC130068080, LOC130068081, LOC130068082, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 1
DMXL2 1 0 0 0 1
DNA2 0 1 0 0 1
DNAJB6 1 0 0 0 1
DNAJC21 1 0 0 0 1
DNAJC30, LOC129998603 1 0 0 0 1
DNAJC6 1 0 0 0 1
DNM2 1 0 0 0 1
DNMT3A 0 1 0 0 1
DOK7 1 0 0 0 1
DPAGT1 0 1 0 0 1
DRC9, RPL35A 1 0 0 0 1
DST 1 0 0 0 1
DUOX2 1 0 0 0 1
DVL1 1 0 0 0 1
DYNLT2B 0 1 0 0 1
EBP 1 0 0 0 1
ECEL1 1 0 0 0 1
ECHS1, LOC130005023 1 0 0 0 1
EEF1A2 1 0 0 0 1
EGR2 1 0 0 0 1
EHMT1, LOC130003148 1 0 0 0 1
EIF2AK2 1 0 0 0 1
EIF2AK3 1 0 0 0 1
EIF2S3 0 1 0 0 1
EIF3F 1 0 0 0 1
ELP4, PAX6 1 0 0 0 1
EPCAM 1 0 0 0 1
ERF 1 0 0 0 1
ERI1 0 1 0 0 1
ETFDH 1 0 0 0 1
ETV6 1 0 0 0 1
EXOSC9 1 0 0 0 1
EXT1 1 0 0 0 1
F8 0 1 0 0 1
FAH 1 0 0 0 1
FANCA 1 0 0 0 1
FARS2, LOC126859565 0 1 0 0 1
FAS 1 0 0 0 1
FASN 1 0 0 0 1
FBN1, LOC126862124 0 1 0 0 1
FBP1 1 0 0 0 1
FBXO11, MSH6 1 0 0 0 1
FBXO31 1 0 0 0 1
FBXW11 0 1 0 0 1
FGF14 1 0 0 0 1
FGFR2 1 0 0 0 1
FGFR3 1 0 0 0 1
FITM2 0 1 0 0 1
FKBP14 1 0 0 0 1
FOXD2 1 0 0 0 1
FOXL2 1 0 0 0 1
FOXRED1 1 0 0 0 1
FRRS1L 1 0 0 0 1
FTL 1 0 0 0 1
FUCA1 1 0 0 0 1
FUCA1, LOC126805661 0 1 0 0 1
G6PD 1 0 0 0 1
GABBR2 1 0 0 0 1
GABRA2 0 1 0 0 1
GABRA4 0 1 0 0 1
GABRB2 1 0 0 0 1
GABRB3 1 0 0 0 1
GABRG2 0 1 0 0 1
GABRG3, HERC2, OCA2 1 0 0 0 1
GAD1 0 1 0 0 1
GATA6 1 0 0 0 1
GATAD1, PEX1 1 0 0 0 1
GBA1 1 0 0 0 1
GDAP1 1 0 0 0 1
GHR 0 1 0 0 1
GHRHR 1 0 0 0 1
GJC2 1 0 0 0 1
GLMN 1 0 0 0 1
GM2A 0 1 0 0 1
GMPPB 0 1 0 0 1
GNAI2 0 1 0 0 1
GNB4 1 0 0 0 1
GPR179 1 0 0 0 1
GRIA3 0 1 0 0 1
GRID2 0 1 0 0 1
GSTZ1 1 0 0 0 1
H4C3 1 0 0 0 1
HBA-LCR, NPRL3 0 1 0 0 1
HFE 1 0 0 0 1
HIVEP2 0 1 0 0 1
HK1 1 0 0 0 1
HMBS 0 1 0 0 1
HNF1A 1 0 0 0 1
HNF4A 1 0 0 0 1
HPDL 1 0 0 0 1
HSD11B2 1 0 0 0 1
HSD17B4 1 0 0 0 1
IDUA 1 0 0 0 1
IFIH1 1 0 0 0 1
IFT140, LOC105371046 1 0 0 0 1
IGHMBP2 1 0 0 0 1
IGSF1 1 0 0 0 1
IL1RAPL1 1 0 0 0 1
IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, LOC126863235, LOC126863236, LOC130068072, LOC130068073, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR4666B, NR0B1, TASL 1 0 0 0 1
IL2RG 0 1 0 0 1
IMPDH2 0 1 0 0 1
IQCE 1 0 0 0 1
IQSEC2 1 0 0 0 1
IRAK4 0 1 0 0 1
IRF2BPL 1 0 0 0 1
ISCA2 1 0 0 0 1
ITGA8 1 0 0 0 1
ITPR1 1 0 0 0 1
JAG1 1 0 0 0 1
JARID2 0 1 0 0 1
KCNA2 1 0 0 0 1
KCNB1 1 0 0 0 1
KCNC1 0 1 0 0 1
KCND3 1 0 0 0 1
KCNH1 1 0 0 0 1
KCNJ1 0 1 0 0 1
KCNQ1 1 0 0 0 1
KCNQ3 1 0 0 0 1
KCNT1 1 0 0 0 1
KDM5B 1 0 0 0 1
KDM5C 1 0 0 0 1
KIAA0586 1 0 0 0 1
KIF1B 0 1 0 0 1
KIF2A 1 0 0 0 1
KIF5A 1 0 0 0 1
KIF5C 1 0 0 0 1
KLHL40 0 1 0 0 1
KMT2D, LOC126861520 1 0 0 0 1
KMT2E 0 1 0 0 1
KPTN 1 0 0 0 1
KRAS 0 1 0 0 1
KRT16 1 0 0 0 1
LDHA 1 0 0 0 1
LIFR 1 0 0 0 1
LIG4 1 0 0 0 1
LMOD3 1 0 0 0 1
LOC107982234, WT1 0 1 0 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 1
LOC108410393, NR0B1 1 0 0 0 1
LOC123956210, SLC26A4 0 1 0 0 1
LOC126806147, LPIN1 1 0 0 0 1
LOC126806421, TTN 1 0 0 0 1
LOC126806798, ZNF148 1 0 0 0 1
LOC126806878, TBL1XR1 0 1 0 0 1
LOC126807619, NSD1 1 0 0 0 1
LOC126859690, PKHD1 1 0 0 0 1
LOC126860970, POLR3A 1 0 0 0 1
LOC126861110, TALDO1 1 0 0 0 1
LOC126861242, NDUFV1 1 0 0 0 1
LOC126861365, TBCEL-TECTA, TECTA 0 1 0 0 1
LOC126862264, MEFV 1 0 0 0 1
LOC126862423, MBTPS1 0 1 0 0 1
LOC126862611, TLK2 1 0 0 0 1
LOC126862757, TCF4 1 0 0 0 1
LOC129388598, WARS2, WARS2-IT1 1 0 0 0 1
LOC129931299, WARS2 1 0 0 0 1
LOC129933272, PTRHD1 1 0 0 0 1
LOC129935026, TBR1 1 0 0 0 1
LOC129935594, PNKD 1 0 0 0 1
LOC130056973, SPG11 1 0 0 0 1
LOC130068854, MECP2 0 1 0 0 1
LRPPRC 1 0 0 0 1
LRRC7 0 1 0 0 1
LRRK2 1 0 0 0 1
LSS 1 0 0 0 1
LTBP3 1 0 0 0 1
MAFB 1 0 0 0 1
MANBA 0 1 0 0 1
MANEAL 0 1 0 0 1
MAP4K4 0 1 0 0 1
MAPK1 0 1 0 0 1
MARK2 1 0 0 0 1
MASP1 1 0 0 0 1
MASP2, TARDBP 1 0 0 0 1
MBOAT7 1 0 0 0 1
MBTPS1 1 0 0 0 1
MC4R 1 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 1
MED12 0 1 0 0 1
MED13 0 1 0 0 1
MEF2C 1 0 0 0 1
MEGF10 0 1 0 0 1
MEN1 0 1 0 0 1
MFF 1 0 0 0 1
MFSD8 0 1 0 0 1
MICU1 1 0 0 0 1
MIR103A2, MIR103B2, PANK2 1 0 0 0 1
MMAB 1 0 0 0 1
MME 1 0 0 0 1
MPC1 0 1 0 0 1
MPDU1 0 1 0 0 1
MPV17, TRIM54, UCN 1 0 0 0 1
MSH2 0 1 0 0 1
MSH6 0 1 0 0 1
MTFMT 1 0 0 0 1
MTOR 0 1 0 0 1
MTRFR 1 0 0 0 1
MYH3 0 1 0 0 1
MYL2 1 0 0 0 1
MYLK 0 1 0 0 1
MYO18B 1 0 0 0 1
MYO1E 0 1 0 0 1
MYOT, PKD2L2-DT 1 0 0 0 1
MYSM1 1 0 0 0 1
NAA10 0 1 0 0 1
NACC1 1 0 0 0 1
NANS, TRIM14 1 0 0 0 1
NDUFB11 0 1 0 0 1
NDUFS1 0 1 0 0 1
NDUFV1 0 1 0 0 1
NEB, RIF1 1 0 0 0 1
NECTIN4 1 0 0 0 1
NEFL 1 0 0 0 1
NEK1 0 1 0 0 1
NEXMIF 1 0 0 0 1
NF2 1 0 0 0 1
NFKB2 1 0 0 0 1
NKX2-5 0 1 0 0 1
NONO 1 0 0 0 1
NPHP3-ACAD11, UBA5 0 1 0 0 1
NPR2, SPAG8 1 0 0 0 1
NR2F1 0 1 0 0 1
NSD2 1 0 0 0 1
NUP205 0 1 0 0 1
NUP37 1 0 0 0 1
OAT 1 0 0 0 1
OGT 0 1 0 0 1
OPA3 0 1 0 0 1
OPTN 1 0 0 0 1
OSGEP 1 0 0 0 1
OSTM1 1 0 0 0 1
PACS1 1 0 0 0 1
PAH 1 0 0 0 1
PAK1 0 1 0 0 1
PAPSS2 1 0 0 0 1
PAX3 1 0 0 0 1
PAX7 1 0 0 0 1
PC 1 0 0 0 1
PCDH15 0 1 0 0 1
PCYT2 1 0 0 0 1
PDHX 1 0 0 0 1
PFKM 0 1 0 0 1
PHACTR1 0 1 0 0 1
PHF6 1 0 0 0 1
PIEZO1 1 0 0 0 1
PIGB 1 0 0 0 1
PIGP 1 0 0 0 1
PIK3R2 0 1 0 0 1
PINK1 1 0 0 0 1
PKD1, RAB26 1 0 0 0 1
PKD2 1 0 0 0 1
PLA2G4A 1 0 0 0 1
PLAA 1 0 0 0 1
PLCB4 1 0 0 0 1
PLCE1 1 0 0 0 1
PLOD2 0 1 0 0 1
PLP1, RAB9B 1 0 0 0 1
PLS3 1 0 0 0 1
PMFBP1 1 0 0 0 1
PMPCB 1 0 0 0 1
PNPLA4, PUDP, STS, VCX 1 0 0 0 1
POLA1 0 1 0 0 1
POLD1 1 0 0 0 1
POU3F2 0 1 0 0 1
PPM1D 1 0 0 0 1
PPP1R12A 1 0 0 0 1
PPT1 1 0 0 0 1
PQBP1 1 0 0 0 1
PRKCE 0 1 0 0 1
PRNP 1 0 0 0 1
PRPH2 0 1 0 0 1
PRPS1 0 1 0 0 1
PRUNE1 1 0 0 0 1
PSMC3 1 0 0 0 1
PSMD12 1 0 0 0 1
PTCHD1 0 1 0 0 1
PUS7 0 1 0 0 1
PYCR1 0 1 0 0 1
PYGM 0 1 0 0 1
PYROXD1 1 0 0 0 1
RAI1 1 0 0 0 1
RALA 0 1 0 0 1
RAPSN 1 0 0 0 1
RARB 0 1 0 0 1
RBCK1 1 0 0 0 1
RBP4 1 0 0 0 1
REEP1 0 1 0 0 1
REST 0 1 0 0 1
RFT1 1 0 0 0 1
RNASEH2A 1 0 0 0 1
RNASEH2B 1 0 0 0 1
RNF213 0 1 0 0 1
RORA 1 0 0 0 1
RORB 1 0 0 0 1
RP1 1 0 0 0 1
RP1L1 1 0 0 0 1
RP2 1 0 0 0 1
RPS6KA3 1 0 0 0 1
RTN4IP1 0 1 0 0 1
SACK1H 1 0 0 0 1
SBF1 0 1 0 0 1
SCAF4 1 0 0 0 1
SCARB2 1 0 0 0 1
SCN1A, SCN7A, SCN9A, TTC21B 1 0 0 0 1
SCN1A, SCN9A 1 0 0 0 1
SCN4A 1 0 0 0 1
SCP2 0 1 0 0 1
SENP7 1 0 0 0 1
SET 1 0 0 0 1
SETD1B 0 1 0 0 1
SETD2 1 0 0 0 1
SGCE 1 0 0 0 1
SHANK1 0 1 0 0 1
SHANK3 1 0 0 0 1
SHH 1 0 0 0 1
SI 0 1 0 0 1
SIN3A 1 0 0 0 1
SLC12A3 0 1 0 0 1
SLC16A1 0 1 0 0 1
SLC16A2 0 1 0 0 1
SLC19A3 1 0 0 0 1
SLC25A19 0 1 0 0 1
SLC25A4 1 0 0 0 1
SLC25A46 0 1 0 0 1
SLC35C1 0 1 0 0 1
SLC6A3 0 1 0 0 1
SMAD3 0 1 0 0 1
SMAD6 0 1 0 0 1
SMARCB1 1 0 0 0 1
SMARCC2 0 1 0 0 1
SNAP25 0 1 0 0 1
SNCA 0 1 0 0 1
SNX14 1 0 0 0 1
SON 1 0 0 0 1
SOX5 0 1 0 0 1
SPG21 1 0 0 0 1
SPTBN1 1 0 0 0 1
SPTLC1 0 1 0 0 1
SSBP1 1 0 0 0 1
SSR4 1 0 0 0 1
STEEP1 1 0 0 0 1
SUCLG1 0 1 0 0 1
SUMF1 1 0 0 0 1
SURF1, SURF2 1 0 0 0 1
SUZ12 1 0 0 0 1
TAB2 1 0 0 0 1
TALDO1 1 0 0 0 1
TARDBP 1 0 0 0 1
TASP1 0 0 0 1 1
TBC1D7, TBC1D7-LOC100130357 1 0 0 0 1
TBX1 0 1 0 0 1
TBX4 1 0 0 0 1
TCF12 0 1 0 0 1
TCOF1 1 0 0 0 1
TGFB2 0 1 0 0 1
TGFBI 1 0 0 0 1
THOC2 0 1 0 0 1
TIMMDC1 0 1 0 0 1
TMEM240 1 0 0 0 1
TNFRSF13B 1 0 0 0 1
TOR1A 1 0 0 0 1
TP63 1 0 0 0 1
TPM1 1 0 0 0 1
TRAPPC11 1 0 0 0 1
TRIM8 1 0 0 0 1
TSC1 1 0 0 0 1
TSEN54 1 0 0 0 1
TTC19 1 0 0 0 1
TTLL5 1 0 0 0 1
TTPA 1 0 0 0 1
TTR 1 0 0 0 1
TUBB3 1 0 0 0 1
TUFM 0 1 0 0 1
TYMP 1 0 0 0 1
UBR7 1 0 0 0 1
USH2A 0 1 0 0 1
VWF 0 0 1 0 1
WAC 0 1 0 0 1
WNT10A 1 0 0 0 1
WRN 1 0 0 0 1
WWOX 0 1 0 0 1
XPA 1 0 0 0 1
ZFHX3 0 1 0 0 1
ZMYND11 1 0 0 0 1
ZNF148 0 1 0 0 1
ZNF699 1 0 0 0 1
ZSWIM6 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 1036
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance not provided total
Familial X-linked hypophosphatemic vitamin D refractory rickets 109 1 1 0 111
X-linked Alport syndrome 39 13 0 0 52
Congenital adrenal hypoplasia, X-linked 25 0 0 0 25
Autosomal recessive Alport syndrome 12 11 0 0 23
Myoclonic dystonia 11 14 4 0 0 18
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 14 1 0 0 15
Benign familial hematuria 2 12 0 0 14
Rett syndrome 9 5 0 0 14
Autosomal recessive hypophosphatemic bone disease 11 2 0 0 13
Dystonia 28, childhood-onset 8 5 0 0 13
Marfan syndrome 9 4 0 0 13
Ataxia-telangiectasia syndrome 9 3 0 0 12
Autosomal dominant Alport syndrome 1 11 0 0 12
Pyruvate dehydrogenase E1-alpha deficiency 7 5 0 0 12
Hypertrophic cardiomyopathy 4 8 3 0 0 11
Noonan syndrome 1 8 3 0 0 11
KBG syndrome 9 1 0 0 10
Kabuki syndrome 1 7 3 0 0 10
Hereditary spastic paraplegia 4 8 1 0 0 9
Hypercholesterolemia, familial, 1 4 5 0 0 9
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 4 5 0 0 9
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 7 2 0 0 9
CHARGE syndrome 5 3 0 0 8
FOXG1 disorder 4 4 0 0 8
Hereditary spastic paraplegia 11 7 1 0 0 8
Neurofibromatosis, type 1 5 3 0 0 8
Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus 5 2 1 0 8
Autosomal recessive polycystic kidney disease 5 2 0 0 7
Developmental and epileptic encephalopathy, 11 6 1 0 0 7
Dystonia 30 3 4 0 0 7
Dystonia 5 2 5 0 0 7
Generalized epilepsy with febrile seizures plus, type 2 6 1 0 0 7
Glucocorticoid deficiency 1 7 0 0 0 7
Hereditary spastic paraplegia 35 3 4 0 0 7
Mitochondrial DNA depletion syndrome 13 4 3 0 0 7
Multiple congenital anomalies-hypotonia-seizures syndrome 1 4 3 0 0 7
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 5 2 0 0 7
Niemann-Pick disease, type C1 4 3 0 0 7
Parkinson disease, late-onset 7 0 0 0 7
SNF8-associated disease 7 0 0 0 7
SPATA5L1-associated disorder 4 3 0 0 7
Aldosterone-producing adrenal cortex adenoma 6 0 0 0 6
Alzheimer disease 3 4 2 0 0 6
Combined oxidative phosphorylation defect type 8 3 3 0 0 6
Congenital multicore myopathy with external ophthalmoplegia 4 2 0 0 6
Developmental and epileptic encephalopathy, 4 4 2 0 0 6
Dyskinesia with orofacial involvement, autosomal dominant 3 3 0 0 6
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 1 5 0 0 6
Frontotemporal dementia 4 2 0 0 6
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 6 0 0 0 6
Hereditary spastic paraplegia 7 6 0 0 0 6
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 6 0 0 0 6
Metachromatic leukodystrophy 4 2 0 0 6
Mowat-Wilson syndrome 4 2 0 0 6
Nemaline myopathy 2 6 0 0 0 6
Nephrotic syndrome, type 2 5 1 0 0 6
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 3 3 0 0 6
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 5 1 0 0 6
Severe myoclonic epilepsy in infancy 5 1 0 0 6
Snijders Blok-Campeau syndrome 3 3 0 0 6
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 4 1 0 0 5
Autosomal recessive ataxia due to ubiquinone deficiency 2 3 0 0 5
Autosomal recessive ataxia, Beauce type 4 1 0 0 5
Brain small vessel disease 1 with or without ocular anomalies 2 3 0 0 5
Charcot-Marie-Tooth disease X-linked dominant 1 3 2 0 0 5
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 5 0 0 0 5
Chromosome 2q32-q33 deletion syndrome 3 2 0 0 5
Coffin-Siris syndrome 1 5 0 0 0 5
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 5 0 0 0 5
Developmental and epileptic encephalopathy, 13 3 2 0 0 5
Developmental and epileptic encephalopathy, 2 4 1 0 0 5
Dilated cardiomyopathy 1G 2 3 0 0 5
Encephalopathy due to GLUT1 deficiency 3 2 0 0 5
Ichthyosis vulgaris 3 2 0 0 5
Intellectual developmental disorder with autism and macrocephaly 2 3 0 0 5
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 3 2 0 0 5
Intellectual disability, X-linked 102 5 0 0 0 5
Leigh syndrome 4 1 0 0 5
Mitochondrial complex IV deficiency, nuclear type 1 4 1 0 0 5
Neurodegeneration with brain iron accumulation 4 4 1 0 0 5
Pigmentary pallidal degeneration 5 0 0 0 5
Pituitary dependent hypercortisolism 5 0 0 0 5
Polycystic kidney disease, adult type 5 0 0 0 5
Respiratory distress; Feeding difficulties; Generalized hypotonia; Infantile spasms 0 0 0 5 5
Severe intellectual disability-progressive spastic diplegia syndrome 5 0 0 0 5
Torsion dystonia 6 3 2 0 0 5
Vascular dilatation; Cerebral calcification; Interstitial pneumonitis; Cirrhosis of liver 5 0 0 0 5
Ataxia-telangiectasia-like disorder 1 1 3 0 0 4
Autosomal recessive DOPA responsive dystonia 2 2 0 0 4
Autosomal recessive juvenile Parkinson disease 2 4 0 0 0 4
Baraitser-Winter syndrome 1 2 2 0 0 4
Central core myopathy 2 2 0 0 4
Coffin-Siris syndrome 6 2 2 0 0 4
Combined oxidative phosphorylation defect type 14 2 2 0 0 4
Combined oxidative phosphorylation defect type 17 2 2 0 0 4
Combined oxidative phosphorylation defect type 20 1 3 0 0 4
Combined oxidative phosphorylation defect type 23 1 3 0 0 4
Cowden syndrome 1 2 2 0 0 4
Creatine transporter deficiency 3 1 0 0 4
Developmental and epileptic encephalopathy, 64 4 0 0 0 4
Developmental and epileptic encephalopathy, 65 3 1 0 0 4
Developmental and epileptic encephalopathy, 7 3 1 0 0 4
Dystonia 12 2 2 0 0 4
Dystonia 24 1 3 0 0 4
Hereditary spastic paraplegia 30 2 2 0 0 4
Hereditary spastic paraplegia 39 3 1 0 0 4
Hereditary spastic paraplegia 75 2 2 0 0 4
Houge-Janssens syndrome 1 4 0 0 0 4
Hypertrophic cardiomyopathy 1 2 2 0 0 4
Hypophosphatemic rickets, autosomal recessive, 2 4 0 0 0 4
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 3 1 0 0 4
Intellectual disability, autosomal dominant 5 2 2 0 0 4
Intellectual disability, autosomal dominant 6 2 2 0 0 4
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 4 0 0 0 4
Long QT syndrome 2 2 2 0 0 4
Malignant hyperthermia, susceptibility to, 1 3 1 0 0 4
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2 2 0 0 4
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2 2 0 0 4
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 1 3 0 0 4
Miyoshi muscular dystrophy 3 4 0 0 0 4
Nail-patella syndrome 3 1 0 0 4
Neurodegeneration with brain iron accumulation 5 2 2 0 0 4
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 2 2 0 0 4
Poirier-Bienvenu neurodevelopmental syndrome 3 1 0 0 4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 4 0 0 0 4
Progressive sclerosing poliodystrophy 3 1 0 0 4
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 3 1 0 0 4
Sotos syndrome 4 0 0 0 4
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 4 0 0 0 4
Tay-Sachs disease 4 0 0 0 4
Tuberous sclerosis 2 3 1 0 0 4
Wiedemann-Steiner syndrome 4 0 0 0 4
8q24.3 microdeletion syndrome 3 0 0 0 3
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 3 0 0 0 3
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2 1 0 0 3
Aicardi-Goutieres syndrome 6 2 1 0 0 3
Amyotrophic lateral sclerosis type 1 2 1 0 0 3
Autism spectrum disorder due to AUTS2 deficiency 2 1 0 0 3
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 3 0 0 0 3
Autosomal dominant optic atrophy classic form 3 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2A 2 1 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2I 3 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 1A 3 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 4 1 2 0 0 3
Blepharophimosis - intellectual disability syndrome, SBBYS type 3 0 0 0 3
Bohring-Opitz syndrome 3 0 0 0 3
Branchiootorenal syndrome 1 3 0 0 0 3
Breast-ovarian cancer, familial, susceptibility to, 2 3 0 0 0 3
Cardiofaciocutaneous syndrome 1 3 0 0 0 3
Catecholaminergic polymorphic ventricular tachycardia 1 0 3 0 0 3
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 2 0 0 3
Cerebral cavernous malformation 3 0 0 0 3
Charcot-Marie-Tooth disease type 4C 3 0 0 0 3
Cockayne syndrome type 1 3 0 0 0 3
Coenzyme Q10 deficiency, primary, 1 2 1 0 0 3
Complex cortical dysplasia with other brain malformations 5 2 1 0 0 3
Congenital contractures of the limbs and face, hypotonia, and developmental delay 1 2 0 0 3
Congenital heart defects, multiple types, 2 2 1 0 0 3
Congenital myasthenic syndrome 4C 2 1 0 0 3
Cystic fibrosis 3 0 0 0 3
DYRK1A-related intellectual disability syndrome 3 0 0 0 3
Danon disease 2 1 0 0 3
Deficiency of adenosine deaminase 2 3 0 0 0 3
Dent disease type 1 3 0 0 0 3
Developmental and epileptic encephalopathy, 16 2 1 0 0 3
Developmental and epileptic encephalopathy, 19 1 2 0 0 3
Developmental and epileptic encephalopathy, 25 3 0 0 0 3
Developmental and epileptic encephalopathy, 42 1 2 0 0 3
Developmental and epileptic encephalopathy, 50 2 1 0 0 3
Developmental delay with dysmorphic facies and dental anomalies 2 1 0 0 3
Developmental delay with variable intellectual impairment and behavioral abnormalities 2 1 0 0 3
Dilated cardiomyopathy 1S 2 1 0 0 3
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 1 2 0 0 3
Epilepsy with myoclonic atonic seizures 2 1 0 0 3
Episodic ataxia type 2 1 2 0 0 3
Ethylmalonic encephalopathy 3 0 0 0 3
Familial juvenile hyperuricemic nephropathy type 1 3 0 0 0 3
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 2 1 0 0 3
Gabriele de Vries syndrome 2 1 0 0 3
Galloway-Mowat syndrome 1 3 0 0 0 3
Glutaric aciduria, type 1 3 0 0 0 3
Glycogen storage disease, type II 2 1 0 0 3
Hematuria, benign familial, 1 0 3 0 0 3
Hereditary spastic paraplegia 3A 2 1 0 0 3
Houge-Janssens syndrome 3 2 1 0 0 3
Hypercalcemia, infantile, 1 1 2 0 0 3
Hyperekplexia 1 1 2 0 0 3
Hypomyelinating leukodystrophy 6 1 2 0 0 3
Ichthyosis, congenital, autosomal recessive 13 3 0 0 0 3
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 2 1 0 0 3
Infantile neuroaxonal dystrophy 2 1 0 0 3
Infantile-onset ascending hereditary spastic paralysis 3 0 0 0 3
Intellectual developmental disorder with autism and speech delay 3 0 0 0 3
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 2 1 0 0 3
Intellectual disability, autosomal dominant 1 1 2 0 0 3
Intellectual disability, autosomal dominant 16 2 1 0 0 3
Intellectual disability, autosomal dominant 29 1 2 0 0 3
Intellectual disability, autosomal dominant 41 1 2 0 0 3
Intellectual disability, autosomal dominant 42 2 1 0 0 3
Kleefstra syndrome 1 3 0 0 0 3
Landau-Kleffner syndrome 1 2 0 0 3
Loeys-Dietz syndrome 1 0 3 0 0 3
Loeys-Dietz syndrome 2 3 0 0 0 3
Macrocephaly-autism syndrome 3 0 0 0 3
Malan overgrowth syndrome 2 1 0 0 3
Maturity-onset diabetes of the young type 2 1 2 0 0 3
Mevalonic aciduria 2 1 0 0 3
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2 1 0 0 3
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 2 1 0 0 3
Mullegama-Klein-Martinez syndrome 2 1 0 0 3
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2 1 0 0 3
Neurodevelopmental disorder with involuntary movements 2 1 0 0 3
Neurodevelopmental disorder with language impairment and behavioral abnormalities 1 2 0 0 3
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 2 1 0 0 3
Noonan syndrome 4 1 2 0 0 3
Peroxisome biogenesis disorder 1A (Zellweger) 2 1 0 0 3
Peroxisome biogenesis disorder 4A (Zellweger) 3 0 0 0 3
Pitt-Hopkins syndrome 3 0 0 0 3
Pontocerebellar hypoplasia type 6 2 1 0 0 3
Propionic acidemia; Cardiomyopathy; Lactic acidosis 2 0 0 1 3
Pulmonary alveolar proteinosis 3 0 0 0 3
Renal cysts and diabetes syndrome 1 2 0 0 3
Severe X-linked myotubular myopathy 3 0 0 0 3
Shwachman-Diamond syndrome 1 2 1 0 0 3
Smith-Lemli-Opitz syndrome 3 0 0 0 3
Spinocerebellar ataxia 48 2 1 0 0 3
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 3 0 0 0 3
Stickler syndrome type 1 3 0 0 0 3
Syndromic X-linked intellectual disability 14 2 1 0 0 3
Telangiectasia, hereditary hemorrhagic, type 1 2 1 0 0 3
Tumoral calcinosis, hyperphosphatemic, familial, 1 3 0 0 0 3
Usmani-Riazuddin syndrome, autosomal dominant 3 0 0 0 3
Vici syndrome 3 0 0 0 3
Xeroderma pigmentosum, group F 2 1 0 0 3
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 2 0 0 0 2
3-Methylglutaconic aciduria type 2 0 2 0 0 2
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2 0 0 0 2
3-hydroxyisobutyryl-CoA hydrolase deficiency 0 2 0 0 2
3-methylglutaconic aciduria type 9 2 0 0 0 2
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 1 0 0 2
ALDH18A1-related de Barsy syndrome 1 1 0 0 2
AMOTL1-associated disorder 1 1 0 0 2
ANK2-associated disorder 0 2 0 0 2
Actin accumulation myopathy 1 1 0 0 2
Alexander disease 2 0 0 0 2
Alternating hemiplegia of childhood 2 2 0 0 0 2
Amyotrophic lateral sclerosis type 10 2 0 0 0 2
Amyotrophic lateral sclerosis type 6 2 0 0 0 2
Aortic aneurysm, familial thoracic 10 0 2 0 0 2
Arrhythmogenic right ventricular dysplasia 8 1 1 0 0 2
Arrhythmogenic right ventricular dysplasia 9 2 0 0 0 2
Arterial calcification, generalized, of infancy, 1 2 0 0 0 2
Asphyxiating thoracic dystrophy 3 0 2 0 0 2
Astigmatism; Congenital hypothalamic hamartoma syndrome; Global developmental delay; Nystagmus; Hypermetropia; Opsoclonus 1 1 0 0 2
Astigmatism; Microphthalmia; Deeply set eye; Hypermetropia; Microcephaly; Trichiasis; Progeroid facial appearance; Anisometropia; Psychomotor retardation 2 0 0 0 2
Auditory neuropathy-optic atrophy syndrome 2 0 0 0 2
Autosomal dominant cerebellar ataxia, deafness and narcolepsy 0 2 0 0 2
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 1 1 0 0 2
Autosomal dominant hypophosphatemic rickets 2 0 0 0 2
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 1 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2D 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2J 1 1 0 0 2
Autosomal recessive multiple pterygium syndrome 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 18B 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 21 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 84B 1 1 0 0 2
Autosomal recessive spinocerebellar ataxia 10 2 0 0 0 2
Autosomal recessive spinocerebellar ataxia 16 1 1 0 0 2
Autosomal recessive spinocerebellar ataxia 17 1 1 0 0 2
Bardet-Biedl syndrome 1 2 0 0 0 2
Bardet-Biedl syndrome 10 2 0 0 0 2
Bardet-Biedl syndrome 12 2 0 0 0 2
Basilicata-Akhtar syndrome 1 1 0 0 2
Becker muscular dystrophy 2 0 0 0 2
Benign hereditary chorea 1 1 0 0 2
Beta-thalassemia HBB/LCRB 2 0 0 0 2
Bethlem myopathy 1A 0 2 0 0 2
Biotinidase deficiency 2 0 0 0 2
Brachydactyly type A1A 1 1 0 0 2
Branchiooculofacial syndrome 2 0 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 2 0 0 0 2
Brugada syndrome 1 1 1 0 0 2
CHEK2-related cancer predisposition 2 0 0 0 2
CSDE1-associated disorder 0 2 0 0 2
CTCF-related neurodevelopmental disorder 0 2 0 0 2
Camptomelic dysplasia 1 1 0 0 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 1 0 0 2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 2 0 0 0 2
Cardiofaciocutaneous syndrome 3 2 0 0 0 2
Cardiofaciocutaneous syndrome 4 1 1 0 0 2
Cardiomyopathy, familial hypertrophic 27 1 1 0 0 2
Cardiomyopathy, familial hypertrophic, 28 1 1 0 0 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 1 1 0 0 2
Cerebellar ataxia-hypogonadism syndrome 2 0 0 0 2
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2 0 0 0 2
Charcot-Marie-Tooth disease dominant intermediate E 0 2 0 0 2
Charcot-Marie-Tooth disease type 2A2 0 2 0 0 2
Charlevoix-Saguenay spastic ataxia 1 1 0 0 2
Childhood apraxia of speech 2 0 0 0 2
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 1 1 0 0 2
Childhood onset GLUT1 deficiency syndrome 2 2 0 0 0 2
Christianson syndrome 1 1 0 0 2
Chromosome 1p32-p31 deletion syndrome 1 1 0 0 2
Cobalamin C disease 1 1 0 0 2
Cohen syndrome 1 1 0 0 2
Combined oxidative phosphorylation defect type 21 0 2 0 0 2
Combined oxidative phosphorylation defect type 24 1 1 0 0 2
Complex cortical dysplasia with other brain malformations 6 0 2 0 0 2
Cone-rod dystrophy 3 1 1 0 0 2
Cone-rod dystrophy 6 2 0 0 0 2
Congenital disorder of deglycosylation 1 2 0 0 0 2
Congenital dyserythropoietic anemia, type I 1 1 0 0 2
Congenital isolated adrenocorticotropic hormone deficiency 2 0 0 0 2
Congenital muscular hypertrophy-cerebral syndrome 2 0 0 0 2
Congenital myasthenic syndrome 16 2 0 0 0 2
Congenital myotonia, autosomal recessive form 2 0 0 0 2
Congenital secretory diarrhea, chloride type 1 1 0 0 2
Cornelia de Lange syndrome 4 1 1 0 0 2
Craniofrontonasal syndrome 2 0 0 0 2
DOORS syndrome 2 0 0 0 2
Deficiency of transaldolase 2 0 0 0 2
Dejerine-Sottas disease 2 0 0 0 2
Desmosterolosis 0 2 0 0 2
Developmental and epileptic encephalopathy 94 1 1 0 0 2
Developmental and epileptic encephalopathy, 29 2 0 0 0 2
Developmental and epileptic encephalopathy, 35 1 1 0 0 2
Developmental and epileptic encephalopathy, 39 1 1 0 0 2
Developmental and epileptic encephalopathy, 51 0 2 0 0 2
Developmental and epileptic encephalopathy, 54 1 1 0 0 2
Developmental and epileptic encephalopathy, 56 1 1 0 0 2
Developmental and epileptic encephalopathy, 69 1 1 0 0 2
Developmental and epileptic encephalopathy, 8 2 0 0 0 2
Developmental and epileptic encephalopathy, 80 2 0 0 0 2
Developmental and epileptic encephalopathy, 84 0 2 0 0 2
Developmental delay and seizures with or without movement abnormalities 2 0 0 0 2
Developmental delay with or without intellectual impairment or behavioral abnormalities 1 1 0 0 2
Diencephalic-mesencephalic junction dysplasia syndrome 1 1 1 0 0 2
Diets-Jongmans syndrome 1 1 0 0 2
Dilated cardiomyopathy 1D 0 2 0 0 2
Dilated cardiomyopathy 1FF 1 1 0 0 2
Dopa-responsive dystonia due to sepiapterin reductase deficiency 0 2 0 0 2
Duchenne muscular dystrophy 0 2 0 0 2
Dystonia 25 0 2 0 0 2
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 2 0 0 0 2
Ehlers-Danlos syndrome, type 4 0 2 0 0 2
Ellis-van Creveld syndrome 2 0 0 0 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 2 0 0 2
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 2 0 0 0 2
Epilepsy, familial focal, with variable foci 1 2 0 0 0 2
Epilepsy, familial focal, with variable foci 2 0 2 0 0 2
Episodic kinesigenic dyskinesia 1 1 1 0 0 2
Familial Mediterranean fever 2 0 0 0 2
Finnish congenital nephrotic syndrome 1 1 0 0 2
Finnish type amyloidosis 2 0 0 0 2
Focal dermal hypoplasia 0 2 0 0 2
Focal segmental glomerulosclerosis 7 1 1 0 0 2
Fucosidosis 1 1 0 0 2
GM1 gangliosidosis type 2 2 0 0 0 2
Generalized epilepsy with febrile seizures plus, type 9 1 1 0 0 2
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 1 1 0 0 2
Glucose-6-phosphate transport defect 2 0 0 0 2
Glycine encephalopathy 1 1 0 0 2
Glycogen storage disease IXa1 1 1 0 0 2
Glycogen storage disease type III 2 0 0 0 2
Gorlin syndrome 2 0 0 0 2
Grange syndrome 2 0 0 0 2
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 2 0 0 0 2
HSD10 mitochondrial disease 1 1 0 0 2
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2 0 0 0 2
Hereditary motor and sensory neuropathy with optic atrophy 0 2 0 0 2
Hereditary spastic paraplegia 5A 2 0 0 0 2
Heterotaxy, visceral, 7, autosomal 1 1 0 0 2
Heterotopia, periventricular, X-linked dominant 2 0 0 0 2
Holt-Oram syndrome 2 0 0 0 2
Houge-Janssens syndrome 2 1 1 0 0 2
Hypercholesterolemia, autosomal dominant, type B 2 0 0 0 2
Hypertrophic cardiomyopathy 26 1 1 0 0 2
Hypertrophic cardiomyopathy 7 1 1 0 0 2
Hypogonadotropic hypogonadism 2 with or without anosmia 1 1 0 0 2
Hypogonadotropic hypogonadism 7 with or without anosmia 2 0 0 0 2
Hypohidrotic X-linked ectodermal dysplasia 1 1 0 0 2
Hypokalemic periodic paralysis, type 2 2 0 0 0 2
Hypomagnesemia, seizures, and intellectual disability 1 2 0 0 0 2
Hypophosphatemic rickets, autosomal recessive, 1 2 0 0 0 2
Hypotonia, ataxia, and delayed development syndrome 0 2 0 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2 0 0 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 2 0 0 0 2
Infantile onset spinocerebellar ataxia 2 0 0 0 2
Intellectual developmental disorder 62 2 0 0 0 2
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 1 1 0 0 2
Intellectual disability, X-linked 49 0 2 0 0 2
Intellectual disability, X-linked 99 0 2 0 0 2
Intellectual disability, X-linked syndromic, Turner type 1 1 0 0 2
Intellectual disability, X-linked, syndromic, Bain type 1 1 0 0 2
Intellectual disability, autosomal dominant 13 0 2 0 0 2
Intellectual disability, autosomal dominant 22 0 2 0 0 2
Intellectual disability, autosomal dominant 50 2 0 0 0 2
Intellectual disability, autosomal dominant 53 1 1 0 0 2
Intellectual disability, autosomal dominant 55, with seizures 1 1 0 0 2
Intellectual disability, autosomal dominant 9 2 0 0 0 2
Intellectual disability, autosomal recessive 53 1 1 0 0 2
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2 0 0 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 2 0 0 0 2
Joubert syndrome 17 1 1 0 0 2
Joubert syndrome 33 1 1 0 0 2
Joubert syndrome 5 2 0 0 0 2
Junctional epidermolysis bullosa, non-Herlitz type 2 0 0 0 2
Juvenile primary lateral sclerosis 2 0 0 0 2
Kabuki syndrome 2 1 1 0 0 2
Kartagener syndrome 1 1 0 0 2
Kleefstra syndrome 2 2 0 0 0 2
Left ventricular noncompaction 10 2 0 0 0 2
Lethal congenital contracture syndrome 11 1 1 0 0 2
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 2 0 0 0 2
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2 0 0 0 2
Liang-Wang syndrome 1 1 0 0 2
Lipid proteinosis 1 1 0 0 2
Lissencephaly due to TUBA1A mutation 2 0 0 0 2
Long QT syndrome 15 2 0 0 0 2
MOGS-congenital disorder of glycosylation 1 1 0 0 2
MYH7-related skeletal myopathy 2 0 0 0 2
Malignant hyperthermia, susceptibility to, 5 2 0 0 0 2
Meckel syndrome, type 3 2 0 0 0 2
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 1 0 0 2
Megalencephaly-capillary malformation-polymicrogyria syndrome 1 1 0 0 2
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 2 0 0 0 2
Methylmalonic acidemia with homocystinuria, type cblJ 0 2 0 0 2
Microcephaly, seizures, and developmental delay 2 0 0 0 2
Microcephaly, short stature, and limb abnormalities 1 1 0 0 2
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 2 0 0 0 2
Mitochondrial DNA depletion syndrome 4b 1 1 0 0 2
Mitochondrial complex I deficiency 2 0 0 0 2
Mitochondrial complex I deficiency, nuclear type 4 1 1 0 0 2
Miyoshi muscular dystrophy 1 2 0 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 2 1 1 0 0 2
Multiple epiphyseal dysplasia type 1 1 1 0 0 2
Multiple mitochondrial dysfunctions syndrome 1 2 0 0 0 2
Muscular dystrophy, limb-girdle, autosomal recessive 23 1 1 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2 0 0 0 2
Myhre syndrome 2 0 0 0 2
Neonatal-onset encephalopathy with rigidity and seizures 1 1 0 0 2
Neurodegeneration with brain iron accumulation 2B 2 0 0 0 2
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 1 1 0 0 2
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 2 0 0 2
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 2 0 0 0 2
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 1 1 0 0 2
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 1 0 0 2
Neurodevelopmental disorder with or without early-onset generalized epilepsy 1 1 0 0 2
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 1 1 0 0 2
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2 0 0 0 2
Neurodevelopmental disorder with spasticity and poor growth 1 1 0 0 2
Neurodevelopmental disorder with speech impairment and dysmorphic facies 1 1 0 0 2
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 2 0 0 2
Neuronal ceroid lipofuscinosis 2 1 1 0 0 2
Neuronal ceroid lipofuscinosis 3 2 0 0 0 2
Neuroocular syndrome 1 1 1 0 0 2
Neuropathy, congenital hypomyelinating, 3 1 1 0 0 2
Nicolaides-Baraitser syndrome 2 0 0 0 2
Noonan syndrome 5 2 0 0 0 2
Noonan syndrome 8 0 2 0 0 2
Obesity due to prohormone convertase I deficiency 0 2 0 0 2
Oculocerebrofacial syndrome, Kaufman type 2 0 0 0 2
Oculofaciocardiodental syndrome 2 0 0 0 2
Paramyotonia congenita of Von Eulenburg 1 1 0 0 2
Parkinsonian-pyramidal syndrome 2 0 0 0 2
Phelan-McDermid syndrome 2 0 0 0 2
Phosphoenolpyruvate carboxykinase deficiency, cytosolic 1 1 0 0 2
Pigmented nodular adrenocortical disease, primary, 4 2 0 0 0 2
Polycystic kidney disease 4 0 2 0 0 2
Pontocerebellar hypoplasia type 1B 2 0 0 0 2
Primary ciliary dyskinesia 7 1 1 0 0 2
Prolidase deficiency 2 0 0 0 2
Pyridoxine-dependent epilepsy 0 2 0 0 2
Renal coloboma syndrome 2 0 0 0 2
Retinitis pigmentosa 66 0 2 0 0 2
Retinitis pigmentosa 80 0 2 0 0 2
Saldino-Mainzer syndrome 2 0 0 0 2
Seizure; Dysphagia; Microcephaly; Severe global developmental delay 2 0 0 0 2
Seizures, benign familial neonatal, 1 0 2 0 0 2
Sengers syndrome 1 1 0 0 2
Severe early-childhood-onset retinal dystrophy 2 0 0 0 2
Sifrim-Hitz-Weiss syndrome 1 1 0 0 2
Snijders blok-fisher syndrome 1 1 0 0 2
Spinocerebellar ataxia type 28 0 2 0 0 2
Spinocerebellar ataxia type 5 0 2 0 0 2
Spondylocarpotarsal synostosis syndrome 2 0 0 0 2
Spondyloepiphyseal dysplasia, kondo-fu type 1 1 0 0 2
Steel syndrome 2 0 0 0 2
Tolchin-Le Caignec syndrome 1 1 0 0 2
Townes-Brocks syndrome 1 2 0 0 0 2
Trichorhinophalangeal dysplasia type I 1 1 0 0 2
Vanishing white matter disease 1 1 0 0 2
Very long chain acyl-CoA dehydrogenase deficiency 2 0 0 0 2
Vissers-Bodmer syndrome 1 1 0 0 2
Vitelliform macular dystrophy 2 1 1 0 0 2
Wilson disease 2 0 0 0 2
Wolfram syndrome 1 2 0 0 0 2
3-Methylglutaconic aciduria type 3 0 1 0 0 1
3MC syndrome 1 1 0 0 0 1
AFF3-associated disorder 0 1 0 0 1
AFG3L2-associated disorder 0 1 0 0 1
AGO1-associated disorder 1 0 0 0 1
ATP5G3-associated disorder 0 1 0 0 1
Abnormality of the kidney; Multicystic kidney dysplasia 1 0 0 0 1
Achondrogenesis type II 1 0 0 0 1
Acromesomelic dysplasia 1, Maroteaux type 1 0 0 0 1
Acromicric dysplasia 1 0 0 0 1
Action myoclonus-renal failure syndrome 1 0 0 0 1
Acute intermittent porphyria 0 1 0 0 1
Adenylosuccinate lyase deficiency 1 0 0 0 1
Adrenoleukodystrophy 0 1 0 0 1
Aicardi-Goutieres syndrome 2 1 0 0 0 1
Aicardi-Goutieres syndrome 4 1 0 0 0 1
Aicardi-Goutieres syndrome 7 1 0 0 0 1
Alagille syndrome due to a JAG1 point mutation 1 0 0 0 1
Allan-Herndon-Dudley syndrome 0 1 0 0 1
Alopecia-intellectual disability syndrome 4 1 0 0 0 1
Alstrom syndrome 1 0 0 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 1 0 0 0 1
Alzheimer disease type 1 1 0 0 0 1
Amelogenesis imperfecta, hypocalcification type 1 0 0 0 1
Aminoacylase 1 deficiency 0 1 0 0 1
Amyloidosis, hereditary systemic 1 1 0 0 0 1
Amyotrophic lateral sclerosis type 12 1 0 0 0 1
Amyotrophic lateral sclerosis, susceptibility to, 24 0 1 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 0 1
Aneurysm-osteoarthritis syndrome 0 1 0 0 1
Aniridia 1 1 0 0 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 1 0 0 0 1
Aortic aneurysm, familial thoracic 7 0 1 0 0 1
Aortic valve disease 2 0 1 0 0 1
Apparent mineralocorticoid excess 1 0 0 0 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 1 0 0 0 1
Atrial septal defect 5 0 1 0 0 1
Atrial septal defect 7 0 1 0 0 1
Auriculocondylar syndrome 2 1 0 0 0 1
Autism, susceptibility to, X-linked 4 0 1 0 0 1
Autism; Stereotypic movement disorder; Speech apraxia; Intellectual disability 0 1 0 0 1
Autoimmune lymphoproliferative syndrome type 1 1 0 0 0 1
Autosomal dominant Parkinson disease 1 0 1 0 0 1
Autosomal dominant Parkinson disease 8 1 0 0 0 1
Autosomal dominant Robinow syndrome 2 1 0 0 0 1
Autosomal dominant centronuclear myopathy 1 0 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 1 0 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 12 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 20 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 69 0 1 0 0 1
Autosomal recessive Parkinson disease 14 1 0 0 0 1
Autosomal recessive cutis laxa type 2B 0 1 0 0 1
Autosomal recessive cutis laxa type 2C 1 0 0 0 1
Autosomal recessive distal spinal muscular atrophy 1 1 0 0 0 1
Autosomal recessive early-onset Parkinson disease 6 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2L 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2T 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type R18 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 23 0 1 0 0 1
Autosomal recessive osteopetrosis 4 0 1 0 0 1
Autosomal recessive osteopetrosis 5 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 14 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 18 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 20 1 0 0 0 1
Avellino corneal dystrophy 1 0 0 0 1
Axial spondylometaphyseal dysplasia 1 0 0 0 1
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 1 0 0 0 1
Baraitser-winter syndrome 2 0 1 0 0 1
Bardet-Biedl syndrome 7 1 0 0 0 1
Bartter disease type 2 0 1 0 0 1
Beta-D-mannosidosis 0 1 0 0 1
Bethlem myopathy 2 1 0 0 0 1
Bifunctional peroxisomal enzyme deficiency 1 0 0 0 1
Biotin-responsive basal ganglia disease 1 0 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 0 0 0 1
Bone marrow failure syndrome 3 1 0 0 0 1
Bone marrow failure syndrome 4 1 0 0 0 1
Bone mineral density quantitative trait locus 18 1 0 0 0 1
Borjeson-Forssman-Lehmann syndrome 1 0 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 1 0 0 1
Brain small vessel disease 2A, autosomal dominant 0 1 0 0 1
Brain-lung-thyroid syndrome 1 0 0 0 1
Branchiootic syndrome 1 1 0 0 0 1
Bruck syndrome 2 0 1 0 0 1
CBL-related disorder 1 0 0 0 1
CNOT3-associated disorder 1 0 0 0 1
Cardiomyopathy, familial restrictive, 1 1 0 0 0 1
Cardiomyopathy; Global developmental delay; Congenital contracture; Hypotonia 1 0 0 0 1
Carnitine palmitoyl transferase II deficiency, severe infantile form 1 0 0 0 1
Cataract 10 multiple types 1 0 0 0 1
Cataract 9 multiple types 1 0 0 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 1 0 0 0 1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2C 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2N 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2T 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2Z 1 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate F 1 0 0 0 1
Charcot-Marie-Tooth disease recessive intermediate A 1 0 0 0 1
Charcot-Marie-Tooth disease type 1F 1 0 0 0 1
Charcot-Marie-Tooth disease type 2I 1 0 0 0 1
Charcot-Marie-Tooth disease type 4B3 0 1 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2EE 1 0 0 0 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 0 0 0 1
Choanal atresia; Microtia; Abnormal pinna morphology; Stenosis of the external auditory canal; Strabismus; Amblyopia 1 0 0 0 1
Chondrodysplasia punctata 2 X-linked dominant 1 0 0 0 1
Ciliary dyskinesia, primary, 38 1 0 0 0 1
Classic dopamine transporter deficiency syndrome 0 1 0 0 1
Coffin-Lowry syndrome 1 0 0 0 1
Coffin-Siris syndrome 8 0 1 0 0 1
Cognitive impairment with or without cerebellar ataxia 0 1 0 0 1
Combined oxidative phosphorylation defect type 15 1 0 0 0 1
Combined oxidative phosphorylation defect type 4 0 1 0 0 1
Combined oxidative phosphorylation defect type 7 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 1 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 2 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 3 1 0 0 0 1
Cone-rod dystrophy 19 1 0 0 0 1
Congenital diarrhea 5 with tufting enteropathy 1 0 0 0 1
Congenital disorder of deglycosylation 1 0 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 0 0 1
Congenital heart defects, multiple types, 6 0 1 0 0 1
Congenital hyperammonemia, type I 1 0 0 0 1
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 1 0 0 0 1
Congenital myasthenic syndrome 10 1 0 0 0 1
Congenital myasthenic syndrome 11 1 0 0 0 1
Congenital myasthenic syndrome 19 0 1 0 0 1
Congenital myopathy with fiber type disproportion 1 0 0 0 1
Congenital myotonia, autosomal dominant form 1 0 0 0 1
Congenital stationary night blindness 1E 1 0 0 0 1
Coxopodopatellar syndrome 1 0 0 0 1
Crouzon syndrome 1 0 0 0 1
Cutis laxa, X-linked 1 0 0 0 1
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 1 0 0 0 1
DEGCAGS syndrome 1 0 0 0 1
DIP2C-associated disorder 1 0 0 0 1
DNA ligase IV deficiency 1 0 0 0 1
DNAJC30-associated disorder 1 0 0 0 1
DPAGT1-congenital disorder of glycosylation 0 1 0 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 0 1 0 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 1 0 0 0 1
Deficiency of ferroxidase 1 0 0 0 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 1 0 0 0 1
Desmin-related myofibrillar myopathy 1 0 0 0 1
Developmental and epileptic encephalopathy 6B 1 0 0 0 1
Developmental and epileptic encephalopathy 89 0 1 0 0 1
Developmental and epileptic encephalopathy 92 1 0 0 0 1
Developmental and epileptic encephalopathy 93 1 0 0 0 1
Developmental and epileptic encephalopathy 97 1 0 0 0 1
Developmental and epileptic encephalopathy, 14 1 0 0 0 1
Developmental and epileptic encephalopathy, 17 1 0 0 0 1
Developmental and epileptic encephalopathy, 26 1 0 0 0 1
Developmental and epileptic encephalopathy, 28 0 1 0 0 1
Developmental and epileptic encephalopathy, 32 1 0 0 0 1
Developmental and epileptic encephalopathy, 33 1 0 0 0 1
Developmental and epileptic encephalopathy, 37 1 0 0 0 1
Developmental and epileptic encephalopathy, 43 1 0 0 0 1
Developmental and epileptic encephalopathy, 44 0 1 0 0 1
Developmental and epileptic encephalopathy, 55 1 0 0 0 1
Developmental and epileptic encephalopathy, 70 0 1 0 0 1
Developmental and epileptic encephalopathy, 78 0 1 0 0 1
Developmental and epileptic encephalopathy, 81 1 0 0 0 1
Developmental delay with autism spectrum disorder and gait instability 1 0 0 0 1
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 1 0 0 1
Developmental delay, impaired speech, and behavioral abnormalities 1 0 0 0 1
Developmental malformations-deafness-dystonia syndrome 1 0 0 0 1
Diamond-Blackfan anemia 5 1 0 0 0 1
Dilated cardiomyopathy 1A 0 1 0 0 1
Dilated cardiomyopathy 1HH 0 1 0 0 1
Dilated cardiomyopathy 1I 0 1 0 0 1
Dilated cardiomyopathy 3B 1 0 0 0 1
Distal arthrogryposis type 5D 1 0 0 0 1
Distal myopathy, Tateyama type 1 0 0 0 1
Drash syndrome 0 1 0 0 1
Duane retraction syndrome 2 0 1 0 0 1
Dystonia 33 1 0 0 0 1
Dystonia 9 1 0 0 0 1
Dystonic disorder 0 1 0 0 1
ERI1-associated disorder 0 1 0 0 1
EVC-associated disorder 1 0 0 0 1
Early-onset generalized limb-onset dystonia 1 0 0 0 1
Ectodermal dysplasia-syndactyly syndrome 1 1 0 0 0 1
Ectopia lentis et pupillae 1 0 0 0 1
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 1 0 0 0 1
Encephalocraniocutaneous lipomatosis 1 0 0 0 1
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 1 0 0 0 1
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 1 0 0 0 1
Epilepsy, early-onset, with or without developmental delay 1 0 0 0 1
Epilepsy, familial focal, with variable foci 3 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 15 1 0 0 0 1
Epiphyseal dysplasia, multiple, 3 0 1 0 0 1
Episodic ataxia, type 9 0 1 0 0 1
Erythrokeratodermia variabilis et progressiva 3 1 0 0 0 1
Exostoses, multiple, type 1 1 0 0 0 1
FASN-associated disorder 1 0 0 0 1
FOXD2-associated disorder 1 0 0 0 1
Familial Mediterranean fever, autosomal dominant 1 0 0 0 1
Familial adenomatous polyposis 1 1 0 0 0 1
Familial cancer of breast 1 0 0 0 1
Familial hyperaldosteronism type II 1 0 0 0 1
Familial hypokalemia-hypomagnesemia 0 1 0 0 1
Familial infantile myasthenia 0 1 0 0 1
Familial isolated deficiency of vitamin E 1 0 0 0 1
Fanconi anemia complementation group A 1 0 0 0 1
Febrile seizures, familial, 8 0 1 0 0 1
Fibrochondrogenesis 2 1 0 0 0 1
Fibromatosis, gingival, 5 0 1 0 0 1
Focal segmental glomerulosclerosis 5 0 1 0 0 1
Focal segmental glomerulosclerosis 6 0 1 0 0 1
Focal segmental glomerulosclerosis and neurodevelopmental syndrome 1 0 0 0 1
Frasier syndrome 1 0 0 0 1
Freeman-Sheldon syndrome 0 1 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 0 1 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 1 0 0 0 1
Fructose-biphosphatase deficiency 1 0 0 0 1
Fumarase deficiency 0 1 0 0 1
GABRA4-associated disorder 0 1 0 0 1
GRACILE syndrome 1 0 0 0 1
Galloway-Mowat syndrome 3 1 0 0 0 1
Geleophysic dysplasia 3 1 0 0 0 1
Genitopatellar syndrome 1 0 0 0 1
Genitourinary and/or brain malformation syndrome 1 0 0 0 1
Gerstmann-Straussler-Scheinker syndrome 1 0 0 0 1
Gillespie syndrome 1 0 0 0 1
Global developmental delay 0 0 0 1 1
Global developmental delay; Delayed speech and language development 0 1 0 0 1
Global developmental delay; EEG abnormality; Exaggerated startle response 0 1 0 0 1
Global developmental delay; Failure to thrive; Developmental dysplasia of the hip; Patent foramen ovale; Atrial septal defect, ostium secundum type; Polymicrogyria; Microcephaly; Microretrognathia; Cerebellar vermis hypoplasia; High anterior hairline; Abnormality of the pulmonary veins; Patent ductus arteriosus 1 0 0 0 1
Global developmental delay; Pes planus; Delayed CNS myelination; Hypotonia 1 0 0 0 1
Global developmental delay; Seizure; Cataract; Nystagmus; Strabismus; Abnormal thorax morphology; Intellectual disability 1 0 0 0 1
Global developmental delay; Seizure; Optic atrophy; Stereotypic movement disorder; Microcephaly 0 1 0 0 1
Glomuvenous malformation 1 0 0 0 1
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 1 0 0 0 1
Glycogen storage disease, type V 0 1 0 0 1
Glycogen storage disease, type VII 0 1 0 0 1
HIST1H4C-associated disorder 1 0 0 0 1
Hajdu-Cheney syndrome 1 0 0 0 1
Harel-Yoon syndrome 0 1 0 0 1
Hemochromatosis type 1 1 0 0 0 1
Hereditary factor VIII deficiency disease 0 1 0 0 1
Hereditary intrinsic factor deficiency 1 0 0 0 1
Hereditary leiomyomatosis and renal cell cancer 1 0 0 0 1
Hereditary liability to pressure palsies 1 0 0 0 1
Hereditary spastic paraplegia 10 1 0 0 0 1
Hereditary spastic paraplegia 2 1 0 0 0 1
Hereditary spastic paraplegia 31 0 1 0 0 1
Hereditary spastic paraplegia 44 1 0 0 0 1
Hereditary spastic paraplegia 52 1 0 0 0 1
Hiatt-Neu-Cooper neurodevelopmental syndrome 0 1 0 0 1
Holoprosencephaly 3 1 0 0 0 1
Hurler syndrome 1 0 0 0 1
Hyper-IgM syndrome type 1 1 0 0 0 1
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 1 0 0 0 1
Hyperinsulinemic hypoglycemia, familial, 1 0 1 0 0 1
Hyperkalemic periodic paralysis 1 0 0 0 1
Hyperpigmentation with or without hypopigmentation, familial progressive 0 1 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 1 0 0 0 1
Hypertrophic cardiomyopathy 10 1 0 0 0 1
Hypertrophic cardiomyopathy 18 1 0 0 0 1
Hypertrophic cardiomyopathy 3 1 0 0 0 1
Hypertrophic cardiomyopathy 9 0 1 0 0 1
IFT140-associated disorder 1 0 0 0 1
Imagawa-Matsumoto syndrome 1 0 0 0 1
Immunodeficiency 67 0 1 0 0 1
Immunodeficiency, common variable, 10 1 0 0 0 1
Immunoglobulin A deficiency 2 1 0 0 0 1
Immunoglobulin-mediated membranoproliferative glomerulonephritis 1 0 0 0 1
Imperforate anus; Renal dysplasia 0 1 0 0 1
Infantile-onset generalized dyskinesia with orofacial involvement 0 1 0 0 1
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0 1 0 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 0 0 0 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 1 0 0 0 1
Intellectual developmental disorder with impaired language and dysmorphic facies 0 1 0 0 1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 1 0 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 1 0 0 0 1
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 67 1 0 0 0 1
Intellectual disability, X-linked 1 1 0 0 0 1
Intellectual disability, X-linked 106 0 1 0 0 1
Intellectual disability, X-linked 107 1 0 0 0 1
Intellectual disability, X-linked 21 1 0 0 0 1
Intellectual disability, X-linked 99, syndromic, female-restricted 1 0 0 0 1
Intellectual disability, autosomal dominant 15 1 0 0 0 1
Intellectual disability, autosomal dominant 24 1 0 0 0 1
Intellectual disability, autosomal dominant 30 1 0 0 0 1
Intellectual disability, autosomal dominant 40 1 0 0 0 1
Intellectual disability, autosomal dominant 43 0 1 0 0 1
Intellectual disability, autosomal dominant 54 1 0 0 0 1
Intellectual disability, autosomal dominant 56 0 1 0 0 1
Intellectual disability, autosomal dominant 57 1 0 0 0 1
Intellectual disability, autosomal dominant 58 1 0 0 0 1
Intellectual disability, autosomal recessive 45 1 0 0 0 1
Intellectual disability, autosomal recessive 57 1 0 0 0 1
Intellectual disability, autosomal recessive 65 1 0 0 0 1
Isolated growth hormone deficiency, type 4 1 0 0 0 1
Joubert syndrome 23 1 0 0 0 1
Joubert syndrome 3 1 0 0 0 1
Juvenile onset Parkinson disease 19A 1 0 0 0 1
KCNQ3-associated disorder 1 0 0 0 1
Keratosis follicularis 0 1 0 0 1
Ketoacidosis due to monocarboxylate transporter-1 deficiency 0 1 0 0 1
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 1 0 0 0 1
Kohlschutter-Tonz syndrome-like 0 1 0 0 1
Koolen-de Vries syndrome 1 0 0 0 1
LRRC7-associated disorder 0 1 0 0 1
Lamb-Shaffer syndrome 0 1 0 0 1
Lambdoidal craniosynostosis 1 0 0 0 1
Laron-type isolated somatotropin defect 0 1 0 0 1
Larsen syndrome 1 0 0 0 1
Leber congenital amaurosis 4 0 1 0 0 1
Lessel-Kreienkamp syndrome 1 0 0 0 1
Leukocyte adhesion deficiency type II 0 1 0 0 1
Leukodystrophy, hypomyelinating, 22 1 0 0 0 1
Leukoencephalopathy with mild cerebellar ataxia and white matter edema 1 0 0 0 1
Leukoencephalopathy, diffuse hereditary, with spheroids 1 0 1 0 0 1
Li-Campeau syndrome 1 0 0 0 1
Lissencephaly due to LIS1 mutation 1 0 0 0 1
Loeys-Dietz syndrome 4 0 1 0 0 1
Long QT syndrome 1 1 0 0 0 1
Luscan-Lumish syndrome 1 0 0 0 1
Lynch syndrome 1 0 1 0 0 1
Lynch syndrome 5 0 1 0 0 1
MANEAL-associated disorder 0 1 0 0 1
MARK2-associated disorder 1 0 0 0 1
MASA syndrome 1 0 0 0 1
MED13-associated disorder 0 1 0 0 1
MEGF10-related myopathy 0 1 0 0 1
MEHMO syndrome 0 1 0 0 1
MPDU1-congenital disorder of glycosylation 0 1 0 0 1
Macrocephaly 1 0 0 0 1
Macrocephaly-developmental delay syndrome 1 0 0 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 1 0 0 1
Macroglossia; Clubfoot; Retrognathia; Hypoglycemia; Anemia; Hepatomegaly; Enlarged kidney; Furrowed tongue; Hypertrophic cardiomyopathy; Persistent patent ductus venosus; Thrombocytopenia; Ventricular septal defect; Intracranial hemorrhage 1 0 0 0 1
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 1 0 0 1
Maleylacetoacetate isomerase deficiency 1 0 0 0 1
Mandibular hypoplasia-deafness-progeroid syndrome 1 0 0 0 1
Mast syndrome 1 0 0 0 1
Maturity-onset diabetes of the young type 1 1 0 0 0 1
Maturity-onset diabetes of the young type 3 1 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 1 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 1 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 1 0 0 1
Melanoma-pancreatic cancer syndrome 1 0 0 0 1
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 1 0 0 0 1
Metatropic dysplasia 1 0 0 0 1
Methylmalonic aciduria, cblB type 1 0 0 0 1
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 1 0 0 0 1
Microcephaly 24, primary, autosomal recessive 1 0 0 0 1
Microcytic anemia; 3-Methylglutaric aciduria; 3-Methylglutaconic aciduria; Myeloid maturation arrest 1 0 0 0 1
Microphthalmia, syndromic 12 0 1 0 0 1
Migraine, familial hemiplegic, 1 1 0 0 0 1
Migraine, familial hemiplegic, 2 1 0 0 0 1
Mitochondrial DNA deletion syndrome with progressive myopathy 0 1 0 0 1
Mitochondrial DNA depletion syndrome 1 1 0 0 0 1
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive 1 0 0 0 1
Mitochondrial DNA depletion syndrome 9 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 2 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 30 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 31 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 5 0 1 0 0 1
Mitochondrial complex III deficiency nuclear type 2 1 0 0 0 1
Mitochondrial pyruvate carrier deficiency 0 1 0 0 1
Motor delay; Failure to thrive; Fetal growth restriction; Abnormal facial shape 0 1 0 0 1
Motor delay; Short stature; Recurrent infections; Decreased circulating total IgM; Retractile testis; Hypopituitarism 0 1 0 0 1
Multicentric carpo-tarsal osteolysis with or without nephropathy 1 0 0 0 1
Multiple acyl-CoA dehydrogenase deficiency 1 0 0 0 1
Multiple endocrine neoplasia, type 1 0 1 0 0 1
Multiple mitochondrial dysfunctions syndrome 2 0 1 0 0 1
Multiple mitochondrial dysfunctions syndrome 4 1 0 0 0 1
Multiple mitochondrial dysfunctions syndrome 6 1 0 0 0 1
Multiple sulfatase deficiency 1 0 0 0 1
Multisystemic smooth muscle dysfunction syndrome 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 1 0 0 0 1
Myofibrillar myopathy 3 1 0 0 0 1
Myofibrillar myopathy 8 1 0 0 0 1
Myoglobinuria, acute recurrent, autosomal recessive 1 0 0 0 1
Myopathy, congenital, progressive, with scoliosis 1 0 0 0 1
Myopia 26, X-linked, female-limited 1 0 0 0 1
Nemaline myopathy 10 1 0 0 0 1
Nemaline myopathy 8 0 1 0 0 1
Nephrotic syndrome, type 13 0 1 0 0 1
Nephrotic syndrome, type 24 1 0 0 0 1
Nephrotic syndrome, type 3 1 0 0 0 1
Nephrotic syndrome, type 4 0 1 0 0 1
Nephrotic syndrome, type 9 1 0 0 0 1
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1 0 0 0 1
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 1 0 0 0 1
Neurodevelopmental disorder with or without autism or seizures 1 0 0 0 1
Neurodevelopmental disorder with poor language and loss of hand skills 1 0 0 0 1
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 1 0 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1 0 0 0 1
Neurodevelopmental disorder with visual defects and brain anomalies 1 0 0 0 1
Neurodevelopmental, jaw, eye, and digital syndrome 0 1 0 0 1
Neuroferritinopathy 1 0 0 0 1
Neurofibromatosis, type 2 1 0 0 0 1
Neuronal ceroid lipofuscinosis 1 1 0 0 0 1
Neuronal ceroid lipofuscinosis 13 1 0 0 0 1
Neuronal ceroid lipofuscinosis 7 0 1 0 0 1
Neuronopathy, distal hereditary motor, type 5C 1 0 0 0 1
Neuropathy, hereditary motor and sensory, type 6A 1 0 0 0 1
Neuropathy, hereditary motor and sensory, type 6B 0 1 0 0 1
Noonan syndrome 13 0 1 0 0 1
Noonan syndrome 3 0 1 0 0 1
Noonan syndrome 7 0 1 0 0 1
O'Donnell-Luria-Rodan syndrome 0 1 0 0 1
Occult macular dystrophy 1 0 0 0 1
Oculodentodigital dysplasia 1 0 0 0 1
Oculopharyngeal muscular dystrophy 1 0 0 0 1
Odonto-onycho-dermal dysplasia 1 0 0 0 1
Ogden syndrome 0 1 0 0 1
Okur-Chung neurodevelopmental syndrome 0 1 0 0 1
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 0 1 0 0 1
Optic atrophy 13 with retinal and foveal abnormalities 1 0 0 0 1
Ornithine aminotransferase deficiency 1 0 0 0 1
Osteogenesis imperfecta type I 1 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 1 0 0 0 1
Oto-palato-digital syndrome, type I 1 0 0 0 1
Otospondylomegaepiphyseal dysplasia, autosomal dominant 0 1 0 0 1
POU3F2-associated disorder 0 1 0 0 1
PRKCE-associated disorder 0 1 0 0 1
Pachyonychia congenita 1 1 0 0 0 1
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1 0 0 0 1
Parkinsonian disorder 1 0 0 0 1
Paroxysmal nonkinesigenic dyskinesia 1 1 0 0 0 1
Patterned macular dystrophy 1 0 1 0 0 1
Periventricular nodular heterotopia 8 0 1 0 0 1
Perry syndrome 1 0 0 0 1
Phenylketonuria 1 0 0 0 1
Phosphoribosylpyrophosphate synthetase superactivity 0 1 0 0 1
Pierpont syndrome 1 0 0 0 1
Polycystic kidney disease 2 1 0 0 0 1
Polydactyly, postaxial, type a7 1 0 0 0 1
Polyglucosan body myopathy type 1 1 0 0 0 1
Pontocerebellar hypoplasia type 2A 1 0 0 0 1
Pontocerebellar hypoplasia type 9 1 0 0 0 1
Pontocerebellar hypoplasia, type 1D 1 0 0 0 1
Progressive demyelinating neuropathy with bilateral striatal necrosis 0 1 0 0 1
Progressive myoclonic epilepsy type 7 0 1 0 0 1
Progressive myositis ossificans 1 0 0 0 1
Progressive retinal dystrophy due to retinol transport defect 1 0 0 0 1
Proliferative vitreoretinopathy 1 0 0 0 1
Proximal muscle weakness; Falls; Muscle spasm; EMG abnormality; Proximal lower limb amyotrophy 0 1 0 0 1
Proximal myopathy with extrapyramidal signs 1 0 0 0 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 1 0 0 0 1
Pulmonary valve stenosis; Seizure; Failure to thrive; Growth delay; Hypothyroidism; Microcephaly; Relative macrocephaly; Developmental stagnation; EEG with spike-wave complexes; Severe global developmental delay 1 0 0 0 1
Pyruvate carboxylase deficiency 1 0 0 0 1
Pyruvate dehydrogenase E3-binding protein deficiency 1 0 0 0 1
RFT1-congenital disorder of glycosylation 1 0 0 0 1
Rapp-Hodgkin syndrome 1 0 0 0 1
Reduced left ventricular ejection fraction; Noncompaction cardiomyopathy 0 1 0 0 1
Renal hypodysplasia/aplasia 1 1 0 0 0 1
Renal tubular dysgenesis 1 0 0 0 1
Renpenning syndrome 1 0 0 0 1
Retinitis pigmentosa 1 1 0 0 0 1
Retinitis pigmentosa 2 1 0 0 0 1
Roifman syndrome 1 0 0 0 1
Rothmund-Thomson syndrome type 3 1 0 0 0 1
SENP7-associated disorder 1 0 0 0 1
SETD1B-associated disorder 0 1 0 0 1
SHANK1-associated disorder 0 1 0 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 1 0 0 0 1
SSR4-congenital disorder of glycosylation 1 0 0 0 1
Sarcotubular myopathy 1 0 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 1
Seizure; Inguinal hernia; Hemangioma; Nephrocalcinosis; Stroke disorder 0 1 0 0 1
Seizures, benign familial infantile, 2 1 0 0 0 1
Seizures, benign familial infantile, 5 0 1 0 0 1
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 1 0 0 0 1
Short stature; Failure to thrive; Microcephaly; Pubertal developmental failure in females 1 0 0 0 1
Short-rib thoracic dysplasia 17 with or without polydactyly 0 1 0 0 1
Sick sinus syndrome 1 0 1 0 0 1
Siddiqi syndrome 0 1 0 0 1
Smith-Magenis syndrome 1 0 0 0 1
Spastic paraplegia 82, autosomal recessive 1 0 0 0 1
Spastic paraplegia 83, autosomal recessive 1 0 0 0 1
Spermatogenic failure 31 1 0 0 0 1
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 1 0 0 1
Spinocerebellar ataxia type 19/22 1 0 0 0 1
Spinocerebellar ataxia type 21 1 0 0 0 1
Spinocerebellar ataxia type 27 1 0 0 0 1
Spinocerebellar ataxia type 29 0 1 0 0 1
Spinocerebellar ataxia, autosomal recessive 31 1 0 0 0 1
Spondyloepimetaphyseal dysplasia, Genevieve type 1 0 0 0 1
Spondyloepimetaphyseal dysplasia, PAPSS2 type 1 0 0 0 1
Spondyloperipheral dysplasia 1 0 0 0 1
Stankiewicz-Isidor syndrome 1 0 0 0 1
Sterol carrier protein 2 deficiency 0 1 0 0 1
Stickler syndrome type 2 1 0 0 0 1
Striatal degeneration, autosomal dominant 2 1 0 0 0 1
Stüve-Wiedemann syndrome 1 1 0 0 0 1
Sucrase-isomaltase deficiency 0 1 0 0 1
Syndromic X-linked intellectual disability 34 1 0 0 0 1
Syndromic X-linked intellectual disability 94 0 1 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 0 0 1
TCF7L2-associated disorder 1 0 0 0 1
TNNI3-associated disorder 0 1 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 0 1 0 0 1
Tay-Sachs disease, variant AB 0 1 0 0 1
Tetralogy of Fallot 0 1 0 0 1
Thanatophoric dysplasia type 1 1 0 0 0 1
Thrombocytopenia 5 1 0 0 0 1
Thyroid dyshormonogenesis 6 1 0 0 0 1
Tibial muscular dystrophy 1 0 0 0 1
Treacher Collins syndrome 1 1 0 0 0 1
Triglyceride storage disease with ichthyosis 1 0 0 0 1
Tuberous sclerosis 1 1 0 0 0 1
Tyrosinemia type I 1 0 0 0 1
Upshaw-Schulman syndrome 1 0 0 0 1
Usher syndrome type 2A 0 1 0 0 1
VPS16-associated disorder 1 0 0 0 1
Visceral myopathy 1 0 1 0 0 1
Waardenburg syndrome type 1 1 0 0 0 1
Werner syndrome 1 0 0 0 1
Wieacker-Wolff syndrome 1 0 0 0 1
Wieacker-Wolff syndrome, female-restricted 1 0 0 0 1
Wolcott-Rallison dysplasia 1 0 0 0 1
Wolfram-like syndrome 1 0 0 0 1
X-linked central congenital hypothyroidism with late-onset testicular enlargement 1 0 0 0 1
X-linked chondrodysplasia punctata 1 0 1 0 0 1
X-linked hydrocephalus syndrome 0 1 0 0 1
X-linked ichthyosis with steryl-sulfatase deficiency 1 0 0 0 1
X-linked intellectual disability Cabezas type 1 0 0 0 1
X-linked intellectual disability with marfanoid habitus 0 1 0 0 1
X-linked intellectual disability, Cantagrel type 1 0 0 0 1
X-linked intellectual disability, van Esch type 0 1 0 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome 1 0 0 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 1 0 0 1
X-linked severe combined immunodeficiency 0 1 0 0 1
Xeroderma pigmentosum group A 1 0 0 0 1
ZFHX3-associated disorder 0 1 0 0 1
ZMYM2-associated disorder 1 0 0 0 1
ZTTK syndrome 1 0 0 0 1
Zimmermann-Laband syndrome 1 1 0 0 0 1
beta Thalassemia 1 0 0 0 1
von Willebrand disease type 3 0 0 1 0 1

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