ClinVar Miner

Variants from Institute of Human Genetics,Klinikum rechts der Isar

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

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 total
936 285 2 0 0 1223

Gene and significance breakdown #

Total genes and gene combinations: 560
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
PHEX 63 0 1 64
PHEX, PTCHD1 45 1 0 46
COL4A5 32 4 0 36
NR0B1 21 0 0 21
COL4A3, MFF-DT 7 7 0 14
GRN 12 0 0 12
SLC34A3 11 1 0 12
KMT2B 6 3 0 9
PDHA1 6 3 0 9
POLG 8 1 0 9
CASD1, SGCE 4 4 0 8
ECHS1 6 2 0 8
MTO1 3 5 0 8
TNR 5 2 1 8
MECP2 6 1 0 7
PKHD1 5 2 0 7
SPAST 6 1 0 7
AARS2 3 3 0 6
ATP1A3 3 3 0 6
ENPP1 6 0 0 6
KMT2D 4 2 0 6
MAPT 4 2 0 6
PTPN11 4 2 0 6
TBK1 6 0 0 6
ALS2 5 0 0 5
ATM 4 1 0 5
ATM, C11orf65 3 2 0 5
FARSB 5 0 0 5
FBXL4 3 2 0 5
FGF23 5 0 0 5
NEB 5 0 0 5
NPHS2 4 1 0 5
PANK2 5 0 0 5
PIGN 4 1 0 5
PLA2G6 4 1 0 5
RALGAPA1 5 0 0 5
RYR1 4 1 0 5
TXNL4A 5 0 0 5
USP8 5 0 0 5
ADCY5 1 3 0 4
ANKRD11 4 0 0 4
ARID1B 4 0 0 4
ARSA 3 1 0 4
CHD7 3 1 0 4
ELAC2 2 2 0 4
FARS2 2 2 0 4
GTPBP3 1 3 0 4
MC2R 4 0 0 4
PURA 3 1 0 4
SCN2A 3 1 0 4
SLC2A1 2 2 0 4
SPATA5 2 2 0 4
TBCD 0 4 0 4
VARS2 1 3 0 4
ZEB2 3 1 0 4
ZNF142 2 2 0 4
ACTA1 2 1 0 3
ACTB 2 1 0 3
ASXL3 2 1 0 3
ATP1A1 3 0 0 3
ATP2B3 3 0 0 3
AUTS2 2 1 0 3
BCL11B 3 0 0 3
CACNA1A 1 2 0 3
CAD 2 1 0 3
COL2A1 3 0 0 3
COQ2 2 1 0 3
COQ4 2 1 0 3
COQ6, ENTPD5 2 1 0 3
COQ8A 2 1 0 3
DDX3X 3 0 0 3
EPG5 3 0 0 3
ETHE1 3 0 0 3
FA2H 2 1 0 3
FBN1 3 0 0 3
GNAO1 3 0 0 3
KCNQ2 1 2 0 3
KIF1A 2 1 0 3
LMX1B 2 1 0 3
MARS1 3 0 0 3
MFN2 1 2 0 3
MMUT 2 1 0 3
MRAP 3 0 0 3
MRE11 0 3 0 3
MYH7 2 1 0 3
NDUFS4 3 0 0 3
NGLY1 2 1 0 3
NPC1 3 0 0 3
NSD1 3 0 0 3
POLR3A 3 0 0 3
RARS2 2 1 0 3
SATB2 3 0 0 3
SBDS 2 1 0 3
SDR9C7 3 0 0 3
SETX 3 0 0 3
SMARCA4 2 1 0 3
SPG7 3 0 0 3
SYNE1 3 0 0 3
TCF4 3 0 0 3
TMEM70 2 1 0 3
TRMU 2 1 0 3
TUBB4A 1 2 0 3
UMOD 3 0 0 3
UQCRFS1 3 0 0 3
WARS2 2 1 0 3
WDR45 1 2 0 3
WFS1 3 0 0 3
AARS1 2 0 0 2
ACADM 1 1 0 2
ACTG1 0 2 0 2
ADAR 1 1 0 2
ADPRS 1 1 0 2
AFG3L2 0 2 0 2
AHDC1 2 0 0 2
ALDH18A1 1 1 0 2
ANO3 1 1 0 2
ASXL1 2 0 0 2
ATP7B 2 0 0 2
BBS1, ZDHHC24 2 0 0 2
BBS12 2 0 0 2
BRAF 2 0 0 2
BTD 2 0 0 2
CALM2 2 0 0 2
CDAN1 1 1 0 2
CDKL5 1 1 0 2
CEP290 2 0 0 2
CFTR 2 0 0 2
CHD8 2 0 0 2
CHRNE 1 1 0 2
CLCN1 2 0 0 2
CLCN2 2 0 0 2
CLCN5 2 0 0 2
CLN3 2 0 0 2
COL27A1 2 0 0 2
COL4A1 2 0 0 2
COL4A3 2 0 0 2
COL4A4 2 0 0 2
COMP 2 0 0 2
COX10 1 1 0 2
CTNNB1 2 0 0 2
CYFIP2 1 1 0 2
CYP21A2, LOC106780800 2 0 0 2
CYP7B1 2 0 0 2
DGUOK 2 0 0 2
DHCR24 0 2 0 2
DHCR7 2 0 0 2
DHDDS 2 0 0 2
DMD 2 0 0 2
DMP1 2 0 0 2
DNAH11 1 1 0 2
DNAI1 1 1 0 2
DONSON 1 1 0 2
DUPD1, KAT6B 2 0 0 2
DYNC1H1 0 2 0 2
DYNC2H1 0 2 0 2
EARS2 2 0 0 2
EIF2B2 1 1 0 2
EVC 2 0 0 2
EYA1 2 0 0 2
FBXO7 2 0 0 2
FKRP 2 0 0 2
FLNA 2 0 0 2
FLNB 2 0 0 2
FOXG1 1 1 0 2
FUCA1 1 1 0 2
GBA, LOC106627981 2 0 0 2
GFM1 2 0 0 2
GH-LCR, SCN4A 1 1 0 2
GLB1 2 0 0 2
GLDC 1 1 0 2
GLDN 1 1 0 2
GLRA1 0 2 0 2
GNRHR 2 0 0 2
GRIN1 1 1 0 2
GSN 2 0 0 2
HECW2 0 2 0 2
HEXA 2 0 0 2
HIBCH 0 2 0 2
HMGCS2 2 0 0 2
HNRNPH2, RPL36A-HNRNPH2 1 1 0 2
HSD17B10 1 1 0 2
HUWE1 1 1 0 2
IFT140 2 0 0 2
ITPA 1 1 0 2
KAT6A 2 0 0 2
KAT6B 2 0 0 2
KIF11 1 1 0 2
KMT2A 2 0 0 2
LOC101929710, PCSK1 0 2 0 2
LOC102724058, SCN1A 1 1 0 2
MECR 2 0 0 2
MED13L 1 1 0 2
MHRT, MYH7 1 1 0 2
MOGS 1 1 0 2
MPZ 2 0 0 2
MTM1 2 0 0 2
MVK 1 1 0 2
NFU1 2 0 0 2
NPHS1 1 1 0 2
PAX2 1 1 0 2
PBX1 2 0 0 2
PCK1 1 1 0 2
PDE10A 1 1 0 2
PEPD 2 0 0 2
PEX1 1 1 0 2
PHKA2 1 1 0 2
PIBF1 1 1 0 2
PIGA 1 1 0 2
PIGG 1 1 0 2
PNKP 2 0 0 2
PNPLA6 2 0 0 2
POMT1 2 0 0 2
PPP2CA 1 1 0 2
PRKACA 2 0 0 2
PRKN 2 0 0 2
PSEN1 2 0 0 2
PTCH1 2 0 0 2
RAD21 1 1 0 2
RHOBTB2 2 0 0 2
RIT1 0 2 0 2
SACS 1 1 0 2
SCN1A 2 0 0 2
SCN8A 0 2 0 2
SETD5 2 0 0 2
SFXN4 2 0 0 2
SGCA 2 0 0 2
SH3TC2 2 0 0 2
SLC25A12 1 1 0 2
SLC37A4 2 0 0 2
SMC1A 2 0 0 2
SOX9 1 1 0 2
SPG11 2 0 0 2
SPTBN2 0 2 0 2
STAG2 1 1 0 2
STX1B 1 1 0 2
STXBP1 1 1 0 2
SURF1 2 0 0 2
TAB2 1 1 0 2
TAZ 0 2 0 2
TBC1D24 2 0 0 2
TBCK 2 0 0 2
TBR1 2 0 0 2
TBX19 2 0 0 2
TH 1 1 0 2
THAP1 1 1 0 2
TIMM50 2 0 0 2
TMEM67 2 0 0 2
TPK1 1 1 0 2
TPP1 1 1 0 2
TRIO 0 2 0 2
TUBB2A 1 1 0 2
TWNK 2 0 0 2
UBE3B 2 0 0 2
UPF3B 2 0 0 2
VPS13B 1 1 0 2
VPS13D 1 1 0 2
WDR73 2 0 0 2
ZNF148 1 1 0 2
ABCC8 0 1 0 1
ACADVL 1 0 0 1
ACTA2 1 0 0 1
ACTG2 0 1 0 1
ACVR1 1 0 0 1
ADA2 1 0 0 1
ADNP2, ATP9B, CTDP1, GALR1, HSBP1L1, KCNG2, LINC00683, LINC01879, MBP, NFATC1, PARD6G, RBFA, SALL3, SLC66A2, TXNL4A, ZNF236, ZNF516 1 0 0 1
ADNP2, ATP9B, CTDP1, HSBP1L1, KCNG2, NFATC1, PARD6G, RBFA, SLC66A2, TXNL4A 1 0 0 1
ADNP2, CTDP1, HSBP1L1, KCNG2, RBFA, SLC66A2, TXNL4A 1 0 0 1
ADSL 1 0 0 1
AGK 1 0 0 1
AGK, DENND11 0 1 0 1
AGT 1 0 0 1
AKT3 0 1 0 1
AMPD2 1 0 0 1
ANO10 1 0 0 1
ANO5 1 0 0 1
AP4S1 1 0 0 1
ARID2 1 0 0 1
ATL1 0 1 0 1
ATP2A2 0 1 0 1
ATP6V1E1 1 0 0 1
B3GALNT2 1 0 0 1
BCAP31 1 0 0 1
BCL2L2-PABPN1, PABPN1 1 0 0 1
BCS1L 1 0 0 1
BEGAIN, DEGS2, EML1, EVL, SLC25A29, SLC25A47, WARS1, WDR25, YY1 1 0 0 1
BICD2 0 1 0 1
BNIPL, PRUNE1 1 0 0 1
C12orf65 1 0 0 1
C16orf74, C16orf95, CIBAR2, COX4I1, CRISPLD2, EMC8, FBXO31, FENDRR, FOXC2, FOXF1, FOXL1, GINS2, GSE1, IRF8, JPH3, KIAA0513, LINC01082, LOC101928737, MAP1LC3B, MTHFSD, ZCCHC14, ZDHHC7 1 0 0 1
CA5A 1 0 0 1
CACNA1E 1 0 0 1
CBL 1 0 0 1
CBLIF 1 0 0 1
CBLL2, PHEX, PTCHD1 1 0 0 1
CDC42 0 1 0 1
CFAP300 1 0 0 1
CHAMP1 1 0 0 1
CHD2 0 1 0 1
CLCN4 0 1 0 1
CLCN7 0 1 0 1
CNNM2 1 0 0 1
COL11A2 1 0 0 1
COL13A1 0 1 0 1
COL1A1 1 0 0 1
COL1A2 1 0 0 1
COL4A2 0 1 0 1
COL6A3 0 1 0 1
COL9A3 0 1 0 1
COQ8B 1 0 0 1
COQ9 1 0 0 1
CPS1 1 0 0 1
CPT2 1 0 0 1
CRYAA 1 0 0 1
CTCF 0 1 0 1
CTSF 1 0 0 1
CXorf21, DMD, FTHL17, GK, IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR3915, MIR4666B, MIR6134, NR0B1, TAB3 1 0 0 1
CXorf21, DMD, FTHL17, GK, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3 1 0 0 1
CXorf21, IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR4666B, NR0B1 1 0 0 1
DDC 1 0 0 1
DES 1 0 0 1
DGKE 1 0 0 1
DNA2 0 1 0 1
DNAJC21 1 0 0 1
DNM1L, YARS2 1 0 0 1
DNMT1 0 1 0 1
DPAGT1 0 1 0 1
DSP 1 0 0 1
DUOX2 1 0 0 1
DVL1 1 0 0 1
DYRK1A 1 0 0 1
DYSF 1 0 0 1
EBP 1 0 0 1
ECEL1 1 0 0 1
EDA 0 1 0 1
EFNB1 1 0 0 1
EGR2 1 0 0 1
EIF2AK3, LOC101928371 1 0 0 1
EIF2S3 0 1 0 1
ENG 1 0 0 1
EPCAM 1 0 0 1
ERCC8 1 0 0 1
ETFDH 1 0 0 1
EXOSC3 1 0 0 1
F8 0 1 0 1
FAM83H 1 0 0 1
FANCA 1 0 0 1
FBXO11 0 1 0 1
FGFR1 1 0 0 1
FGFR2 1 0 0 1
FKBP14 1 0 0 1
FOXL2 1 0 0 1
FOXP1 1 0 0 1
FOXP2 1 0 0 1
FOXRED1 1 0 0 1
FRRS1L 1 0 0 1
FUS 1 0 0 1
G6PD 1 0 0 1
GAA 1 0 0 1
GABRA1 0 1 0 1
GABRG3, HERC2, OCA2 1 0 0 1
GATAD1, PEX1 1 0 0 1
GBA 1 0 0 1
GCDH 1 0 0 1
GCH1 0 1 0 1
GDAP1 1 0 0 1
GFAP 1 0 0 1
GHR 0 1 0 1
GHRHR 1 0 0 1
GJA1 1 0 0 1
GJB1 1 0 0 1
GJB2 1 0 0 1
GNB1 1 0 0 1
GNB4 1 0 0 1
GRID2 0 1 0 1
GRIN2A 0 1 0 1
GRIN2B 0 1 0 1
GSTZ1 1 0 0 1
GUCY2D 1 0 0 1
HK1 1 0 0 1
HSD11B2 1 0 0 1
HSD17B4 1 0 0 1
IFIH1 1 0 0 1
IGHMBP2 1 0 0 1
IGSF1 1 0 0 1
IL1RAPL1 1 0 0 1
INF2 0 1 0 1
IQCG, RPL35A 1 0 0 1
ISCA2 1 0 0 1
ITPR1 1 0 0 1
KCNC1 0 1 0 1
KCNH1 1 0 0 1
KCNH2 0 1 0 1
KCNT1 1 0 0 1
KIAA0586 1 0 0 1
KIF2A 1 0 0 1
KIF5C 1 0 0 1
KLHL40 0 1 0 1
KMT2C 1 0 0 1
KPTN 1 0 0 1
KRT16 1 0 0 1
LAMP2 1 0 0 1
LDLR 0 1 0 1
LIPT2 1 0 0 1
LIPT2, LOC100287896 1 0 0 1
LMNA 0 1 0 1
LMOD3 1 0 0 1
LOC105371049, PKD1 1 0 0 1
LOC107982234, WT1 0 1 0 1
LOC108410393, NR0B1 1 0 0 1
LPIN1 1 0 0 1
LRPPRC 1 0 0 1
LRRK2 1 0 0 1
MAFB 1 0 0 1
MAG 1 0 0 1
MAP2K1 1 0 0 1
MAP2K2 1 0 0 1
MAPK8IP3 1 0 0 1
MASP1 1 0 0 1
MEA1, PPP2R5D 1 0 0 1
MEF2C 1 0 0 1
MFSD8 0 1 0 1
MMAB 1 0 0 1
MORC2 1 0 0 1
MPC1 0 1 0 1
MPDU1 0 1 0 1
MPV17 1 0 0 1
MSL3 0 1 0 1
MTFMT 1 0 0 1
MTOR 0 1 0 1
MYBPC3 1 0 0 1
MYLK 0 1 0 1
MYO18B 1 0 0 1
MYO1E 0 1 0 1
MYOT 1 0 0 1
MYSM1 1 0 0 1
NAA10 0 1 0 1
NAA15 1 0 0 1
NANS, TRIM14 1 0 0 1
NCAPH2, SCO2 1 0 0 1
NDUFS8 0 1 0 1
NEB, RIF1 1 0 0 1
NECTIN4 1 0 0 1
NF1 1 0 0 1
NFIA 0 1 0 1
NFKB2 1 0 0 1
NKX2-1, SFTA3 0 1 0 1
NONO 1 0 0 1
NPHP3-ACAD11, UBA5 0 1 0 1
NUP205 0 1 0 1
NUP37 1 0 0 1
NUS1 1 0 0 1
OAT 1 0 0 1
OPA3 0 1 0 1
OSTM1 1 0 0 1
PAK1 0 1 0 1
PAPSS2 1 0 0 1
PDHX 1 0 0 1
PHF6 1 0 0 1
PIGP 1 0 0 1
PINK1 1 0 0 1
PKD1 1 0 0 1
PKD1, RAB26 1 0 0 1
PLA2G4A 1 0 0 1
PLAA 1 0 0 1
PLCE1 1 0 0 1
PLOD2 0 1 0 1
PLP1, RAB9B 1 0 0 1
PMFBP1 1 0 0 1
POLA1 0 1 0 1
POU3F3 1 0 0 1
PPP2R1A 1 0 0 1
PQBP1 1 0 0 1
PRPS1 0 1 0 1
PRRT2 1 0 0 1
PRUNE1 1 0 0 1
PSMD12 1 0 0 1
PTEN 1 0 0 1
PUS7 0 1 0 1
PYGM 0 1 0 1
RAF1 1 0 0 1
RAI1 1 0 0 1
RBCK1 1 0 0 1
REST 0 1 0 1
RFT1 1 0 0 1
RNF216 1 0 0 1
RORA 1 0 0 1
RORB 1 0 0 1
RTN4IP1 0 1 0 1
SALL1 1 0 0 1
SBF1 0 1 0 1
SCARB2 1 0 0 1
SCN1A, SCN7A, SCN9A, TTC21B 1 0 0 1
SCN1A, SCN9A 1 0 0 1
SCN4A 1 0 0 1
SCP2 0 1 0 1
SERAC1 0 1 0 1
SET 1 0 0 1
SETBP1 1 0 0 1
SHANK3 1 0 0 1
SLC12A3 0 1 0 1
SLC13A5 1 0 0 1
SLC19A3 1 0 0 1
SLC25A19 0 1 0 1
SLC25A4 1 0 0 1
SLC25A42 1 0 0 1
SLC25A46 0 1 0 1
SLC6A1 0 1 0 1
SLC6A3 0 1 0 1
SLC6A8 1 0 0 1
SLC9A6 1 0 0 1
SMARCB1 1 0 0 1
SMARCC2 0 1 0 1
SOD1 0 1 0 1
SON 1 0 0 1
SOX11 1 0 0 1
SOX5 0 1 0 1
SPR 0 1 0 1
SUMF1 1 0 0 1
SYNGAP1 1 0 0 1
TARDBP 1 0 0 1
TASP1 1 0 0 1
TBC1D7, TBC1D7-LOC100130357 1 0 0 1
TBL1XR1 1 0 0 1
TBX1 0 1 0 1
TBX4 1 0 0 1
TBX5 1 0 0 1
TCF20 1 0 0 1
TCOF1 1 0 0 1
TCTEX1D2 0 1 0 1
TFAP2A 1 0 0 1
TGFBI 1 0 0 1
TGFBR1 0 1 0 1
TGFBR2 1 0 0 1
THOC2 0 1 0 1
TIMMDC1 0 1 0 1
TLK2 1 0 0 1
TNNI3 1 0 0 1
TNNT2 0 1 0 1
TOR1A 1 0 0 1
TP63 1 0 0 1
TRAPPC11 1 0 0 1
TRPS1 1 0 0 1
TRPV4 0 1 0 1
TSC1 1 0 0 1
TSC2 1 0 0 1
TTN 1 0 0 1
TUBA1A 1 0 0 1
TUBB 0 1 0 1
TUFM 0 1 0 1
UBTF 1 0 0 1
UNC80 1 0 0 1
USP9X 1 0 0 1
VARS1 1 0 0 1
WNT10A 1 0 0 1
WRN 1 0 0 1
WWOX 0 1 0 1
YWHAG 1 0 0 1
ZBTB18 0 1 0 1
ZC4H2 1 0 0 1
ZMYND11 1 0 0 1

Condition and significance breakdown #

Total conditions: 569
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Familial X-linked hypophosphatemic vitamin D refractory rickets 108 1 1 110
Alport syndrome 1, X-linked recessive 32 4 0 36
Congenital adrenal hypoplasia, X-linked 25 0 0 25
Alport syndrome, autosomal recessive 11 7 0 18
Autosomal recessive hypophosphatemic bone disease 11 1 0 12
Frontotemporal dementia, ubiquitin-positive 12 0 0 12
Ataxia-telangiectasia syndrome 7 3 0 10
Dystonia 28, childhood-onset 6 3 0 9
Pyruvate dehydrogenase E1-alpha deficiency 6 3 0 9
Combined oxidative phosphorylation deficiency 10 3 5 0 8
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 6 2 0 8
Myoclonic dystonia 4 4 0 8
Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus 5 2 1 8
ACTH resistance 7 0 0 7
Autosomal recessive polycystic kidney disease 5 2 0 7
Rett syndrome 6 1 0 7
Spastic paraplegia 4, autosomal dominant 6 1 0 7
Aldosterone Producing Adrenal Cortex Adenoma 6 0 0 6
Combined oxidative phosphorylation deficiency 8 3 3 0 6
Frontotemporal dementia 4 2 0 6
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 6 0 0 6
Kabuki syndrome 1 4 2 0 6
Nemaline myopathy 2 6 0 0 6
Noonan syndrome 1 4 2 0 6
Burn-McKeown syndrome 5 0 0 5
Dilatation; Cerebral calcification; Interstitial pneumonitis; Liver cirrhosis 5 0 0 5
Leigh syndrome 4 1 0 5
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 3 2 0 5
Multiple congenital anomalies-hypotonia-seizures syndrome 1 4 1 0 5
Nephrotic syndrome, idiopathic, steroid-resistant 4 1 0 5
Pigmentary pallidal degeneration 5 0 0 5
Pituitary dependent hypercortisolism 5 0 0 5
Respiratory distress; Feeding difficulties; Generalized hypotonia; Infantile spasms 5 0 0 5
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 4 1 0 5
CHARGE association 3 1 0 4
Cerebellar ataxia infantile with progressive external ophthalmoplegia 4 0 0 4
Coffin-Siris syndrome 1 4 0 0 4
Combined oxidative phosphorylation deficiency 14 2 2 0 4
Combined oxidative phosphorylation deficiency 17 2 2 0 4
Combined oxidative phosphorylation deficiency 20 1 3 0 4
Combined oxidative phosphorylation deficiency 23 1 3 0 4
Dyskinesia, familial, with facial myokymia 1 3 0 4
Early infantile epileptic encephalopathy 11 3 1 0 4
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 0 4 0 4
Epilepsy, hearing loss, and mental retardation syndrome 2 2 0 4
GLUT1 deficiency syndrome 1 2 2 0 4
Hypophosphatemic rickets, autosomal recessive, 2 4 0 0 4
KBG syndrome 4 0 0 4
Mental retardation, autosomal dominant 31 3 1 0 4
Metachromatic leukodystrophy 3 1 0 4
Minicore myopathy 3 1 0 4
Mowat-Wilson syndrome 3 1 0 4
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS 2 2 0 4
Ataxia-telangiectasia-like disorder 1 0 3 0 3
Bainbridge-Ropers syndrome 2 1 0 3
Cardiomyopathy; Lactic acidosis; Propionicacidemia 3 0 0 3
Chromosome 2q32-q33 deletion syndrome 3 0 0 3
Coenzyme Q10 deficiency, primary 1 2 1 0 3
Coenzyme Q10 deficiency, primary, 4 2 1 0 3
Coenzyme Q10 deficiency, primary, 6 2 1 0 3
Coenzyme Q10 deficiency, primary, 7 2 1 0 3
Congenital disorder of deglycosylation 2 1 0 3
Dystonia 12 1 2 0 3
Epileptic encephalopathy, early infantile, 50 2 1 0 3
Ethylmalonic encephalopathy 3 0 0 3
Generalized epilepsy with febrile seizures plus, type 2 2 1 0 3
Hyperphosphatemic familial tumoral calcinosis 1 3 0 0 3
Hypomyelinating leukodystrophy 7 3 0 0 3
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 3 0 0 3
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 3 0 0 3
Infantile neuroaxonal dystrophy 2 1 0 3
Infantile-onset ascending hereditary spastic paralysis 3 0 0 3
Leukodystrophy, hypomyelinating, 6 1 2 0 3
Liver failure acute infantile 2 1 0 3
Mental retardation, X-linked 102 3 0 0 3
Mental retardation, autosomal dominant 16 2 1 0 3
Mental retardation, autosomal dominant 26 2 1 0 3
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2 1 0 3
NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES 2 1 0 3
Nail-patella syndrome 2 1 0 3
Neurodegeneration with brain iron accumulation 5 1 2 0 3
Niemann-Pick disease type C1 3 0 0 3
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 2 1 0 3
Parkinson disease, late-onset 3 0 0 3
Peroxisome biogenesis disorder 1A (Zellweger) 2 1 0 3
Pitt-Hopkins syndrome 3 0 0 3
Polycystic kidney disease, adult type 3 0 0 3
Pontocerebellar hypoplasia type 6 2 1 0 3
Pulmonary alveolar proteinosis 3 0 0 3
Shwachman-Diamond syndrome 1 2 1 0 3
Sotos syndrome 1 3 0 0 3
Spastic paraplegia 35 2 1 0 3
Spastic paraplegia 7 3 0 0 3
Spinocerebellar ataxia, autosomal recessive 8 3 0 0 3
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 3 0 0 3
Vici syndrome 3 0 0 3
Young Simpson syndrome 3 0 0 3
3-METHYLGLUTACONIC ACIDURIA, TYPE IX 2 0 0 2
3-Methylglutaconic aciduria type 2 0 2 0 2
Adrenocorticotropic hormone deficiency 2 0 0 2
Aicardi-Goutieres syndrome 6 1 1 0 2
Alternating hemiplegia of childhood 2 2 0 0 2
Alzheimer disease, type 3 2 0 0 2
Arterial calcification, generalized, of infancy, 1 2 0 0 2
Autism 5 2 0 0 2
Autism, susceptibility to, 18 2 0 0 2
Autosomal dominant hypophosphatemic rickets 2 0 0 2
Autosomal recessive hypophosphatemic vitamin D refractory rickets 2 0 0 2
Baraitser-Winter syndrome 1 1 1 0 2
Bardet-Biedl syndrome 1 2 0 0 2
Bardet-Biedl syndrome 12 2 0 0 2
Beta-hydroxyisobutyryl-CoA deacylase deficiency 0 2 0 2
Biotinidase deficiency 2 0 0 2
C-like syndrome 2 0 0 2
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 2 0 0 2
Camptomelic dysplasia 1 1 0 2
Cardiofaciocutaneous syndrome 1 2 0 0 2
Ceroid lipofuscinosis neuronal 2 1 1 0 2
Charcot-Marie-Tooth disease, type 4C 2 0 0 2
Ciliary dyskinesia, primary, 7 1 1 0 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2 0 0 2
Cohen syndrome 1 1 0 2
Combined oxidative phosphorylation deficiency 1 2 0 0 2
Combined oxidative phosphorylation deficiency 12 2 0 0 2
Combined oxidative phosphorylation deficiency 18 2 0 0 2
Congenital disorder of glycosylation type 2B 1 1 0 2
Congenital dyserythropoietic anemia, type I 1 1 0 2
Congenital heart defects, multiple types, 2 1 1 0 2
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 2 0 0 2
Congenital muscular hypertrophy-cerebral syndrome 2 0 0 2
Congenital myasthenic syndrome, acetazolamide-responsive 2 0 0 2
Congenital myotonia, autosomal recessive form 2 0 0 2
Cornelia de Lange syndrome 4 1 1 0 2
Cortical dysplasia, complex, with other brain malformations 5 1 1 0 2
Cutis laxa-corneal clouding-oligophrenia syndrome 1 1 0 2
Cystic fibrosis 2 0 0 2
DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES 2 0 0 2
DOORS syndrome 2 0 0 2
Dejerine-Sottas disease 2 0 0 2
Dent disease 1 2 0 0 2
Desmosterolosis 0 2 0 2
Diabetes mellitus AND insipidus with optic atrophy AND deafness 2 0 0 2
Dilated cardiomyopathy 1S 1 1 0 2
Dystonia 24 1 1 0 2
Dystonia 6, torsion 1 1 0 2
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 2 0 0 2
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES 2 0 0 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 2 0 0 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 1 1 0 2
Early infantile epileptic encephalopathy 10 2 0 0 2
Early infantile epileptic encephalopathy 2 1 1 0 2
Early infantile epileptic encephalopathy 4 1 1 0 2
Early infantile epileptic encephalopathy 7 1 1 0 2
Ellis-van Creveld syndrome 2 0 0 2
Epileptic encephalopathy, early infantile, 29 2 0 0 2
Epileptic encephalopathy, early infantile, 35 1 1 0 2
Finnish congenital nephrotic syndrome 1 1 0 2
Fucosidosis 1 1 0 2
GM1 gangliosidosis type 2 2 0 0 2
Galloway-Mowat syndrome 1 2 0 0 2
Generalized epilepsy with febrile seizures plus, type 9 1 1 0 2
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 1 1 0 2
Glucose-6-phosphate transport defect 2 0 0 2
Glycogen storage disease type IXa1 1 1 0 2
Gorlin syndrome 2 0 0 2
HSD10 disease 1 1 0 2
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 1 1 0 2
Hereditary motor and sensory neuropathy with optic atrophy 0 2 0 2
Hyperekplexia 1 0 2 0 2
Hypogonadotropic hypogonadism 7 with or without anosmia 2 0 0 2
Hypomyelination, global cerebral 1 1 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 2 0 0 2
JOUBERT SYNDROME 33 1 1 0 2
Joubert syndrome 5 2 0 0 2
Juvenile neuronal ceroid lipofuscinosis 2 0 0 2
Juvenile primary lateral sclerosis 2 0 0 2
Kartagener syndrome 1 1 0 2
Kaufman oculocerebrofacial syndrome 2 0 0 2
Lethal congenital contracture syndrome 11 1 1 0 2
Leukoencephalopathy with vanishing white matter 1 1 0 2
Limb-girdle muscular dystrophy, type 2D 2 0 0 2
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2 0 0 2
Long QT syndrome 15 2 0 0 2
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 1 1 0 2
MULLEGAMA-KLEIN-MARTINEZ SYNDROME 1 1 0 2
Marfan syndrome 2 0 0 2
Meckel syndrome type 3 2 0 0 2
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 1 0 2
Mental retardation and distinctive facial features with or without cardiac defects 1 1 0 2
Mental retardation, X-linked, syndromic, Bain type 1 1 0 2
Mental retardation, X-linked, syndromic, Turner type 1 1 0 2
Mental retardation, autosomal dominant 19 2 0 0 2
Mental retardation, autosomal dominant 23 2 0 0 2
Mental retardation, autosomal dominant 32 2 0 0 2
Mental retardation, autosomal dominant 44 0 2 0 2
Mental retardation, autosomal recessive 53 1 1 0 2
Mental retardation, syndromic 14, X-linked 2 0 0 2
Meretoja syndrome 2 0 0 2
Mevalonic aciduria 1 1 0 2
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1 1 0 2
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 2 0 0 2
Mitochondrial DNA-depletion syndrome 3, hepatocerebral 2 0 0 2
Mitochondrial complex I deficiency 2 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 2 1 1 0 2
Multiple mitochondrial dysfunctions syndrome 1 2 0 0 2
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency 1 1 0 2
Myopathy, distal, 1 2 0 0 2
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 1 1 0 2
NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES 1 1 0 2
Nemaline myopathy 3 1 1 0 2
Neurodegeneration with brain iron accumulation 2b 2 0 0 2
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 2 0 2
Neurodevelopmental disorder with involuntary movements 2 0 0 2
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 2 0 0 2
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 1 1 0 2
Non-ketotic hyperglycinemia 1 1 0 2
Noonan syndrome 8 0 2 0 2
Parkinson disease 15 2 0 0 2
Parkinson disease 2 2 0 0 2
Phosphoenolpyruvate carboxykinase deficiency, cytosolic 1 1 0 2
Pigmented nodular adrenocortical disease, primary, 4 2 0 0 2
Prolidase deficiency 2 0 0 2
Proprotein convertase 1/3 deficiency 0 2 0 2
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2 0 0 2
Rett syndrome, congenital variant 1 1 0 2
Segawa syndrome, autosomal recessive 1 1 0 2
Sengers syndrome 1 1 0 2
Severe X-linked myotubular myopathy 2 0 0 2
Severe myoclonic epilepsy in infancy 2 0 0 2
Short-rib thoracic dysplasia 3 with or without polydactyly 0 2 0 2
Smith-Lemli-Opitz syndrome 2 0 0 2
Spastic ataxia Charlevoix-Saguenay type 1 1 0 2
Spastic paraplegia 11, autosomal recessive 2 0 0 2
Spastic paraplegia 30, autosomal recessive 1 1 0 2
Spastic paraplegia 39 2 0 0 2
Spastic paraplegia 5A 2 0 0 2
Spinocerebellar ataxia 28 0 2 0 2
Spinocerebellar ataxia 5 0 2 0 2
Spinocerebellar ataxia autosomal recessive 4 1 1 0 2
Spondylocarpotarsal synostosis syndrome 2 0 0 2
Steel syndrome 2 0 0 2
Tay-Sachs disease 2 0 0 2
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) 1 1 0 2
Wiedemann-Steiner syndrome 2 0 0 2
Wilson disease 2 0 0 2
Xia-Gibbs syndrome 2 0 0 2
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2 0 0 2
22q13.3 deletion syndrome 1 0 0 1
3-Methylglutaconic aciduria type 3 0 1 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 1 0 1
Achondrogenesis, type II 1 0 0 1
Acromicric dysplasia 1 0 0 1
Adenylosuccinate lyase deficiency 1 0 0 1
Aicardi-Goutieres syndrome 7 1 0 0 1
Alexander Disease 1 0 0 1
Amelogenesis imperfecta, hypocalcification type 1 0 0 1
Amyotrophic lateral sclerosis type 1 0 1 0 1
Amyotrophic lateral sclerosis type 10 1 0 0 1
Amyotrophic lateral sclerosis type 6 1 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 1
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 1 0 0 1
Aortic aneurysm, familial thoracic 7 0 1 0 1
Apparent mineralocorticoid excess 1 0 0 1
Avellino corneal dystrophy 1 0 0 1
BASILICATA-AKHTAR SYNDROME 0 1 0 1
BONE MARROW FAILURE SYNDROME 4 1 0 0 1
Baraitser-Winter Syndrome 2 0 1 0 1
Becker muscular dystrophy 1 0 0 1
Benign familial neonatal seizures 1 0 1 0 1
Benign hereditary chorea 0 1 0 1
Bethlem myopathy 1 0 1 0 1
Bifunctional peroxisomal enzyme deficiency 1 0 0 1
Biotin-thiamine-responsive basal ganglia disease 1 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus 1 0 0 1
Bone marrow failure syndrome 3 1 0 0 1
Borjeson-Forssman-Lehmann syndrome 1 0 0 1
Brain malformations and urinary tract defects 0 1 0 1
Brain small vessel disease 1 with or without ocular anomalies 1 0 0 1
Branchiooculofacial syndrome 1 0 0 1
Branchiootic syndrome 1 0 0 1
Bruck syndrome 2 0 1 0 1
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE 1 0 0 1
COFFIN-SIRIS SYNDROME 6 1 0 0 1
COFFIN-SIRIS SYNDROME 8 0 1 0 1
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC 1 0 0 1
Carbonic anhydrase VA deficiency, hyperammonemia due to 1 0 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 0 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 1
Cardiofaciocutaneous syndrome 4 1 0 0 1
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 1 0 0 1
Cataract, autosomal dominant 1 0 0 1
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 0 1 0 1
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 0 1 0 1
Ceroid lipofuscinosis neuronal 7 0 1 0 1
Ceroid lipofuscinosis, neuronal, 13 1 0 0 1
Charcot-Marie-Tooth disease type 2C 0 1 0 1
Charcot-Marie-Tooth disease type 2I 1 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2z 1 0 0 1
Charcot-Marie-Tooth disease, dominant intermediate F 1 0 0 1
Charcot-Marie-Tooth disease, recessive intermediate A 1 0 0 1
Charcot-Marie-Tooth disease, type 2A2A 1 0 0 1
Charcot-Marie-Tooth disease, type 4B3 0 1 0 1
Chondrodysplasia punctata 2 X-linked dominant 1 0 0 1
Christianson syndrome 1 0 0 1
Chromosome Xq28 deletion syndrome 1 0 0 1
Ciliary dyskinesia, primary, 38 1 0 0 1
Cockayne syndrome type A 1 0 0 1
Coenzyme Q10 deficiency, primary, 5 1 0 0 1
Cognitive impairment with or without cerebellar ataxia 0 1 0 1
Combined oxidative phosphorylation deficiency 15 1 0 0 1
Combined oxidative phosphorylation deficiency 4 0 1 0 1
Combined oxidative phosphorylation deficiency 7 1 0 0 1
Common variable immunodeficiency 10 1 0 0 1
Cone-rod dystrophy 6 1 0 0 1
Congenital disorder of glycosylation type 1F 0 1 0 1
Congenital disorder of glycosylation type 1J 0 1 0 1
Congenital disorder of glycosylation type 1N 1 0 0 1
Congenital hyperammonemia, type I 1 0 0 1
Congenital myopathy with fiber type disproportion 1 0 0 1
Cortical dysplasia, complex, with other brain malformations 2 1 0 0 1
Cortical dysplasia, complex, with other brain malformations 3 1 0 0 1
Cortical dysplasia, complex, with other brain malformations 6 0 1 0 1
Craniofrontonasal dysplasia 1 0 0 1
Creatine deficiency, X-linked 1 0 0 1
Crouzon syndrome 1 0 0 1
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES 1 0 0 1
Danon disease 1 0 0 1
Deafness, autosomal dominant 20 0 1 0 1
Deafness, autosomal recessive 1A 1 0 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 1 0 0 1
Diamond-Blackfan anemia 5 1 0 0 1
Diarrhea 5, with tufting enteropathy, congenital 1 0 0 1
Dilated cardiomyopathy 3B 1 0 0 1
Dilated cardiomyopathy with woolly hair and keratoderma 1 0 0 1
Distal arthrogryposis type 5D 1 0 0 1
Distal myopathy Markesbery-Griggs type 1 0 0 1
Drash syndrome 0 1 0 1
Dyskinesia, limb and orofacial, infantile-onset 0 1 0 1
Dystonia 1 1 0 0 1
Dystonia 5, Dopa-responsive type 0 1 0 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 1 0 0 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 1 0 0 1
Early infantile epileptic encephalopathy 13 0 1 0 1
Early infantile epileptic encephalopathy 14 1 0 0 1
Early infantile epileptic encephalopathy 17 1 0 0 1
Early infantile epileptic encephalopathy 55 1 0 0 1
Ectodermal dysplasia-syndactyly syndrome 1 1 0 0 1
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 1 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 1 0 1
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 1 0 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 15 1 0 0 1
Epilepsy, progressive myoclonic 4, with or without renal failure 1 0 0 1
Epilepsy, progressive myoclonic 7 0 1 0 1
Epileptic encephalopathy, childhood-onset 0 1 0 1
Epileptic encephalopathy, early infantile, 19 0 1 0 1
Epileptic encephalopathy, early infantile, 25 1 0 0 1
Epileptic encephalopathy, early infantile, 28 0 1 0 1
Epileptic encephalopathy, early infantile, 37 1 0 0 1
Epileptic encephalopathy, early infantile, 42 0 1 0 1
Epileptic encephalopathy, early infantile, 44 0 1 0 1
Episodic ataxia type 2 0 1 0 1
Erythrokeratodermia variabilis et progressiva 3 1 0 0 1
FIBROMATOSIS, GINGIVAL, 5 0 1 0 1
Familial hypercholesterolemia 1 0 1 0 1
Familial hypertrophic cardiomyopathy 1 0 1 0 1
Familial hypertrophic cardiomyopathy 4 1 0 0 1
Familial hypertrophic cardiomyopathy 7 1 0 0 1
Familial hypokalemia-hypomagnesemia 0 1 0 1
Familial juvenile gout 1 0 0 1
Fanconi anemia, complementation group A 1 0 0 1
Fibrochondrogenesis 2 1 0 0 1
Focal segmental glomerulosclerosis 5 0 1 0 1
Focal segmental glomerulosclerosis 6 0 1 0 1
Focal segmental glomerulosclerosis 7 0 1 0 1
GABRIELE-DE VRIES SYNDROME 1 0 0 1
GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS 1 0 0 1
GRACILE syndrome 1 0 0 1
Genitopatellar syndrome 1 0 0 1
Gillespie syndrome 1 0 0 1
Global developmental delay 1 0 0 1
Glomerulocystic kidney disease with hyperuricemia and isosthenuria 1 0 0 1
Glutaric aciduria, type 1 1 0 0 1
Glutaric aciduria, type 2 1 0 0 1
Glycogen storage disease, type II 1 0 0 1
Glycogen storage disease, type V 0 1 0 1
Gordon Holmes syndrome 1 0 0 1
Hereditary factor VIII deficiency disease 0 1 0 1
Hereditary hemorrhagic telangiectasia type 1 1 0 0 1
Holt-Oram syndrome 1 0 0 1
Hyperaldosteronism, familial, type II 1 0 0 1
Hyperinsulinemic hypoglycemia, familial, 1 0 1 0 1
Hypohidrotic X-linked ectodermal dysplasia 0 1 0 1
Hypomagnesemia, seizures, and mental retardation 1 1 0 0 1
Hypothyroidism, central, and testicular enlargement 1 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 1 0 0 1
INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE 0 1 0 1
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES 0 1 0 1
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY 0 1 0 1
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA 1 0 0 1
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV 1 0 0 1
Indifference to pain, congenital, autosomal recessive 1 0 0 1
Intrinsic factor deficiency 1 0 0 1
Ischiopatellar dysplasia 1 0 0 1
Joubert syndrome 23 1 0 0 1
Juvenile-onset dystonia 1 0 0 1
Kallmann syndrome 2 1 0 0 1
Keratosis follicularis 0 1 0 1
Kleefstra syndrome 2 1 0 0 1
Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 1 0 0 1
Lamb-shaffer syndrome 0 1 0 1
Laron-type isolated somatotropin defect 0 1 0 1
Left ventricular noncompaction 6 0 1 0 1
Leigh syndrome, French Canadian type 1 0 0 1
Leukoencephalopathy with ataxia 1 0 0 1
Leukoencephalopathy with dystonia and motor neuropathy 0 1 0 1
Limb-girdle muscular dystrophy, type 2B 1 0 0 1
Limb-girdle muscular dystrophy, type 2L 1 0 0 1
Limb-girdle muscular dystrophy, type 2S 1 0 0 1
Lissencephaly 3 1 0 0 1
Loeys-Dietz syndrome 1 0 1 0 1
Loeys-Dietz syndrome 2 1 0 0 1
Long QT syndrome 2 0 1 0 1
MALEYLACETOACETATE ISOMERASE DEFICIENCY 1 0 0 1
MEHMO syndrome 0 1 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 1 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES 1 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 1 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 1 0 0 1
METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION 1 0 0 1
MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE 1 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 0 1 0 1
Macrocephalus 1 0 0 1
Macrocephaly/autism syndrome 1 0 0 1
Medullary cystic kidney disease 2 1 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 1 0 1