Skeletal Disorders and Joint Problems Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesGene CPT Codes Copy CPT Codes
10631 ACAN81479,81479 Add to Order
ACP581479,81479
ACTA281405,81479
ACVR181479,81479
ADAMTS1081479,81479
ADAMTS1781479,81479
ADAMTS281479,81479
ADAMTSL281479,81479
ADAMTSL481479,81479
AEBP181479,81479
AFF481479,81479
AGA81479,81479
AGPS81479,81479
AHI181407,81479
AIFM181479,81479
AKT181479,81479
AKT381479,81479
ALDH18A181479,81479
ALDH1A381479,81479
ALDH281479,81479
ALPL81479,81479
ALX181479,81479
ALX381479,81479
ALX481479,81479
AMER181479,81479
ANKH81479,81479
ANKRD1181479,81479
ANO581406,81479
ANTXR281479,81479
APC281479,81479
ARCN181479,81479
ARHGAP3181479,81479
ARID1A81479,81479
ARID1B81479,81479
ARL13B81479,81479
ARL681479,81479
ARMC981479,81479
ARSB81479,81479
ARSE81479,81479
ASCC181479,81479
ASPM81407,81479
ASTN281479,81479
ASXL181175,81479
ASXL381479,81479
ATP6AP181479,81479
ATP6V0A281479,81479
ATP6V1A81479,81479
ATP6V1E181479,81479
ATP7A81479,81479
ATR81479,81479
ATRIP81479,81479
B3GALT681479,81479
B3GAT381479,81479
B4GALT781479,81479
B9D181479,81479
B9D281479,81479
BBIP181479,81479
BBS181406,81479
BBS1081404,81479
BBS1281479,81479
BBS281406,81479
BBS481479,81479
BBS581479,81479
BBS781479,81479
BBS981479,81479
BCO181479,81479
BCOR81479,81479
BGN81479,81479
BHLHA981479,81479
BMP181479,81479
BMP281479,81479
BMP481479,81479
BMPER81479,81479
BMPR1B81479,81479
BRCA281216,81167
BRD481479,81479
BRIP181479,81479
BTRC81479,81479
C1R81479,81479
C1S81479,81479
C8orf3781479,81479
CA281479,81479
CACNA1C81479,81479
CADPS81479,81479
CANT181479,81479
CASR81405,81479
CBS81406,81479
CC2D2A81479,81479
CCBE181479,81479
CCDC881479,81479
CCND281479,81479
CCNQ81479,81479
CDC4581479,81479
CDC681479,81479
CDC7381479,81479
CDH181406,81479
CDH1181479,81479
CDH381479,81479
CDK5RAP281479,81479
CDK981479,81479
CDKN1C81479,81479
CDT181479,81479
CENPE81479,81479
CENPJ81479,81479
CEP10481479,81479
CEP12081479,81479
CEP15281479,81479
CEP16481479,81479
CEP29081408,81479
CEP4181479,81479
CEP5581479,81479
CFAP41081479,81479
CHD781407,81479
CHST1181479,81479
CHST1481479,81479
CHST381479,81479
CHSY181479,81479
CHUK81479,81479
CIBAR181479,81479
CILK181479,81479
CKAP2L81479,81479
CLCN581479,81479
CLCN781479,81479
CNOT281479,81479
COG181479,81479
COG481479,81479
COL10A181479,81479
COL11A181479,81479
COL11A281479,81479
COL12A181479,81479
COL1A181408,81479
COL1A281408,81479
COL27A181479,81479
COL2A181479,81479
COL3A181479,81479
COL5A181479,81479
COL5A281479,81479
COL9A181479,81479
COL9A281479,81479
COL9A381479,81479
COMP81479,81479
COX4I181479,81479
CPLANE181479,81479
CREB3L181479,81479
CREBBP81407,81406
CRIPT81479,81479
CRTAP81479,81479
CSGALNACT181479,81479
CSPP181479,81479
CTCF81479,81479
CTNND181479,81479
CTSA81479,81479
CTSK81479,81479
CTU281479,81479
CUL781479,81479
CYP26B181479,81479
CYP27B181479,81479
CYP2R181479,81479
DDR281479,81479
DDRGK181479,81479
DDX5881479,81479
DDX5981479,81479
DHCR2481479,81479
DHCR781405,81479
DHODH81479,81479
DIP2C81479,81479
DLL381479,81479
DLL481479,81479
DLX381479,81479
DLX581479,81479
DLX681479,81479
DMP181479,81479
DNA281479,81479
DNAJC2181479,81479
DNMT3A81479,81479
DOCK681479,81479
DPF281479,81479
DSE81479,81479
DVL181479,81479
DVL281479,81479
DVL381479,81479
DYM81479,81479
DYNC1I181479,81479
DYNC2H181479,81479
DYNC2LI181479,81479
EBP81479,81479
EDN181479,81479
EDNRA81479,81479
EFEMP281479,81479
EFL181479,81479
EFNB181479,81479
EFTUD281479,81479
EHHADH81479,81479
EIF2AK381479,81479
ELN81479,81479
ENPP181479,81479
EOGT81479,81479
EP30081479,81479
ERCC481479,81479
ERF81479,81479
ESCO281479,81479
ESPL181479,81479
EVC81479,81479
EVC281479,81479
EXOC6B81479,81479
EXT181479,81479
EXT281479,81479
EXTL381479,81479
EYA181406,81405
EZH281236,81479
FAM111A81479,81479
FAM20C81479,81479
FAM98C81479,81479
FANCA81479,81479
FANCB81479,81479
FANCC81479,81479
FANCD281479,81479
FANCE81479,81479
FANCF81479,81479
FANCG81479,81479
FANCI81479,81479
FANCM81479,81479
FAR181479,81479
FAT181479,81479
FBLN181479,81479
FBLN581479,81479
FBN181408,81479
FBN281479,81479
FBXL481479,81479
FBXW1181479,81479
FBXW481479,81479
FDFT181479,81479
FERMT381479,81479
FGD181479,81479
FGF1081479,81479
FGF1681479,81479
FGF2381404,81479
FGF881479,81479
FGF981479,81479
FGFR181405,81479
FGFR281479,81479
FGFR381479,81479
FIG481406,81479
FKBP1081479,81479
FKBP1481479,81479
FLNA81479,81479
FLNB81479,81479
FMN181479,81479
FN181479,81479
FOXE381479,81479
FRAS181479,81479
FREM181479,81479
FREM281479,81479
FUCA181479,81479
FUZ81479,81479
FZD281479,81479
GALNS81479,81479
GALNT381479,81479
GDF381479,81479
GDF581479,81479
GDF681479,81479
GGCX81479,81479
GHSR81479,81479
GJA181479,81479
GLB181479,81479
GLI181479,81479
GLI281479,81479
GLI381479,81479
GMNN81479,81479
GNAI381479,81479
GNAS81479,81479
GNPAT81479,81479
GNPTAB81479,81479
GNPTG81479,81479
GNS81479,81479
GON4L81479,81479
GORAB81479,81479
GPAA181479,81479
GPC381479,81479
GPC481479,81479
GPC681479,81479
GPX481479,81479
GREM181479,81479
GRHL281479,81479
GRHL381479,81479
GRIN2B81479,81479
GSC81479,81479
GUSB81479,81479
GZF181479,81479
HAAO81479,81479
HDAC481479,81479
HDAC881479,81479
HES781479,81479
HGSNAT81479,81479
HNF4A81406,81479
HNRNPK81479,81479
HOXA181479,81479
HOXA1181479,81479
HOXA1381479,81479
HOXD1381479,81479
HPGD81479,81479
HRAS81404,81479
HSPA981479,81479
HSPG281479,81479
HYAL281479,81479
IARS281479,81479
IDH181479,81479
IDH281403,81479
IDS81405,81479
IDUA81406,81479
IFIH181479,81479
IFITM581479,81479
IFT12281479,81479
IFT14081479,81479
IFT17281479,81479
IFT2781479,81479
IFT4381479,81479
IFT5281479,81479
IFT7481479,81479
IFT8081479,81479
IFT8181479,81479
IGF181479,81479
IGF1R81479,81479
IHH81479,81479
IL11RA81479,81479
IMPAD181479,81479
INPP5E81479,81479
INPPL181479,81479
INTU81479,81479
IQCE81479,81479
IRF681479,81479
KAT6A81479,81479
KAT6B81479,81479
KATNB181479,81479
KCNN381479,81479
KCTD181479,81479
KDM1A81479,81479
KDM5B81479,81479
KDM6A81479,81479
KDM6B81479,81479
KIAA055681479,81479
KIAA058681479,81479
KIAA075381479,81479
KIAA082581479,81479
KIAA110981479,81479
KIF1481479,81479
KIF2281479,81479
KIF781479,81479
KL81479,81479
KMT2A81479,81479
KMT2D81479,81479
KYNU81479,81479
LARP781479,81479
LBR81479,81479
LBX181479,81479
LEMD381479,81479
LFNG81479,81479
LHX481479,81479
LIFR81479,81479
LIG481479,81479
LMBR181479,81479
LMNA81406,81479
LMX1B81479,81479
LONP181479,81479
LOX81479,81479
LRP481479,81479
LRP581406,81479
LRRK181479,81479
LTBP281479,81479
LTBP481479,81479
LZTFL181479,81479
LZTS181479,81479
MAB21L281479,81479
MAD2L281479,81479
MAFB81479,81479
MAN2B181479,81479
MANBA81479,81479
MAP2K181406,81479
MAP3K2081479,81479
MAP3K781479,81479
MASP181479,81479
MAT2A81479,81479
MATN381479,81479
MBL281479,81479
MBTPS281479,81479
MCPH181479,81479
MECOM81479,81479
MED1281479,81479
MEGF881479,81479
MEIS281479,81479
MEOX181479,81479
MEPE81479,81479
MESD81479,81479
MESP281479,81479
MFAP581479,81479
MGP81479,81479
MIR17HG81479,81479
MKKS81479,81479
MKS181479,81479
MMP1381479,81479
MMP1481479,81479
MMP281479,81479
MMP981479,81479
MNX181479,81479
MSL381479,81479
MSX181479,81479
MSX281479,81479
MYCN81479,81479
MYH1181408,81479
MYH381479,81479
MYH881479,81479
MYLK81479,81479
MYO18B81479,81479
NAA1081479,81479
NAGLU81479,81479
NANS81479,81479
NBAS81479,81479
NECTIN481479,81479
NEDD4L81479,81479
NEK181479,81479
NEK981479,81479
NEU181479,81479
NF181408,81479
NFIX81479,81479
NIN81479,81479
NIPBL81479,81479
NKX3-281479,81479
NLRP381479,81479
NOG81479,81479
NOTCH181407,81479
NOTCH281479,81479
NPHP181406,81405
NPHP381479,81479
NPPC81479,81479
NPR281479,81479
NPR381479,81479
NRXN181479,81479
NSD181406,81405
NSDHL81479,81479
NSMCE281479,81479
NSUN281479,81479
NTRK181479,81479
NXN81479,81479
OBSL181479,81479
OFD181479,81479
ORC181479,81479
ORC481479,81479
ORC681479,81479
OSTM181479,81479
P3H181479,81479
P4HB81479,81479
PACS181479,81479
PALB281307,81479
PAM1681479,81479
PAPSS281479,81479
PAX381479,81479
PAX881479,81479
PCGF281479,81479
PCNT81479,81479
PCYT1A81479,81479
PDE3A81479,81479
PDE4D81479,81479
PDE6D81479,81479
PDGFC81479,81479
PDGFRB81479,81479
PEX581479,81479
PEX781479,81479
PGAP381479,81479
PHEX81406,81479
PHF681479,81479
PHGDH81479,81479
PIEZO281479,81479
PIGN81479,81479
PIGV81479,81479
PIK3CA81479,81479
PIK3R281479,81479
PISD81479,81479
PITX181479,81479
PITX281479,81479
PLCB481479,81479
PLEKHA581479,81479
PLEKHA781479,81479
PLK481479,81479
PLOD181479,81479
PLOD281479,81479
PLOD381479,81479
PLP181405,81404
PLS381479,81479
POC1A81479,81479
POLD381479,81479
POLE81479,81479
POLR1A81479,81479
POLR1C81479,81479
POLR1D81479,81479
POP181479,81479
POR81479,81479
PORCN81479,81479
PPIB81479,81479
PRDM581479,81479
PRKAR1A81479,81479
PRKG181479,81479
PROK281479,81479
PTDSS181479,81479
PTH1R81479,81479
PTHLH81479,81479
PTPN1181406,81479
PYCR181479,81479
RAB2381479,81479
RAB33B81479,81479
RAC181479,81479
RAC381479,81479
RAD2181479,81479
RAD5181479,81479
RAD51C81479,81479
RAP1A81479,81479
RAP1B81479,81479
RBBP881479,81479
RBM8A81479,81479
RBPJ81479,81479
RECQL481479,81479
RIN281479,81479
RIPK481479,81479
RIPPLY281479,81479
RMRP81479,81479
RNU4ATAC81479,81479
ROR281479,81479
RPGRIP1L81479,81479
RPL1381479,81479
RSPRY181479,81479
RTTN81479,81479
RUNX281479,81479
SALL181479,81479
SALL481479,81479
SBDS81479,81479
SBF181479,81479
SCN1A81407,81479
SDCCAG881479,81479
SEC24D81479,81479
SEM181479,81479
SERPINF181479,81479
SERPINH181479,81479
SETD281479,81479
SETD581479,81479
SF3B481479,81479
SFRP481479,81479
SGCE81406,81405
SGMS281479,81479
SGSH81479,81479
SH3BP281479,81479
SH3PXD2B81479,81479
SHH81479,81479
SIX181479,81479
SIX581479,81479
SKI81479,81479
SLC10A781479,81479
SLC17A581479,81479
SLC25A2181479,81479
SLC25A2481479,81479
SLC26A281479,81479
SLC29A381479,81479
SLC2A1081479,81479
SLC2A281479,81479
SLC34A181479,81479
SLC34A381479,81479
SLC35D181479,81479
SLC39A1381479,81479
SLC9A3R181479,81479
SLCO2A181479,81479
SLCO5A181479,81479
SLX481479,81479
SMAD281479,81479
SMAD381479,81479
SMAD481406,81405
SMARCA481479,81479
SMARCAD181479,81479
SMARCAL181479,81479
SMARCB181479,81479
SMARCE181479,81479
SMC1A81479,81479
SMC381479,81479
SMO81479,81479
SMOC181479,81479
SMS81479,81479
SNRPB81479,81479
SNX1081479,81479
SOST81479,81479
SOX1181479,81479
SOX981479,81479
SP781479,81479
SPARC81479,81479
SPECC1L81479,81479
SQSTM181479,81479
SRCAP81479,81479
SRP5481479,81479
STAG281479,81479
SUCO81479,81479
SULF181479,81479
SUMF181479,81479
SYT181479,81479
TAB281479,81479
TAF181479,81479
TAF681479,81479
TALDO181479,81479
TAPT181479,81479
TBCE81479,81479
TBX181479,81479
TBX1581479,81479
TBX381479,81479
TBX481479,81479
TBX581405,81479
TBX681479,81479
TBXAS181479,81479
TCF1281479,81479
TCIRG181479,81479
TCOF181479,81479
TCTEX1D281479,81479
TCTN181479,81479
TCTN281479,81479
TCTN381479,81479
TENT5A81479,81479
TFAP2A81479,81479
TFAP2B81479,81479
TGDS81479,81479
TGFB181479,81479
TGFB281479,81479
TGFB381479,81479
TGFBR181405,81479
TGFBR281405,81479
THPO81479,81479
TKT81479,81479
TMEM10781479,81479
TMEM13881479,81479
TMEM16581479,81479
TMEM21681479,81479
TMEM23181479,81479
TMEM23781479,81479
TMEM38B81479,81479
TMEM6781407,81479
TNFRSF11A81479,81479
TNFRSF11B81479,81479
TNFRSF1A81479,81479
TNFSF1181479,81479
TNNT381479,81479
TNXB81479,81479
TONSL81479,81479
TP6381479,81479
TRAF3IP181479,81479
TRAIP81479,81479
TRAPPC281479,81479
TRAPPC6A81479,81479
TREM281479,81479
TRIM3281479,81479
TRIP1181479,81479
TRIP481479,81479
TRNT181479,81479
TRPS181479,81479
TRPV481479,81479
TRPV681479,81479
TTC21B81479,81479
TTC2881479,81479
TTC881479,81479
TUBGCP681479,81479
TWIST181404,81403
TXNL4A81479,81479
TYROBP81479,81479
UBE2T81479,81479
VAC1481479,81479
VDR81479,81479
VPS33A81479,81479
WASHC581407,81479
WDPCP81479,81479
WDR1981479,81479
WDR2681479,81479
WDR3481479,81479
WDR3581479,81479
WDR3781479,81479
WDR481479,81479
WDR6081479,81479
WISP381479,81479
WNT181479,81479
WNT10B81479,81479
WNT381479,81479
WNT3A81479,81479
WNT5A81479,81479
WNT7A81479,81479
XRCC281479,81479
XRCC481479,81479
XYLT181479,81479
XYLT281479,81479
YY1AP181479,81479
ZBTB1881479,81479
ZIC181479,81479
ZMPSTE2481479,81479
ZNF14181479,81479
ZNF46981479,81479
ZNF66881479,81479
ZSWIM681479,81479
Test Code Test Copy Genes Total Price Panel CPT Code Gene CPT Codes Copy CPT Code STAT
10631 Genes x (697) $1790 81479 81167, 81175, 81216, 81236, 81307, 81403, 81404, 81405, 81406, 81407, 81408, 81479 Add to Order

Pricing Comments

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

TNXB exons 32-44 are not analyzed due to multiple close copies of these sequences in the genome. If full coverage of TNXB is needed, we can offer that enhancement for an additional $530 dollars (Test Code 6088).

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

Targeted Testing

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

Turnaround Time

30 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Skeletal disorders are a clinically and genetically heterogeneous group of diseases that impair skeletal or joint function. The diagnosis of these patients is based on clinical presentation, ultrasound/X-ray findings, and genetic testing. Genetic skeletal disorders can be divided into 461 groups based on Nosology and Classification of Genetic Skeletal Disorders: 2019 Revision (Mortier et al. 2019. PubMed ID: 31633310).

Genetics

This panel includes genes associated with a variety of genetic skeletal conditions as described in the article “Nosology and Classification of Genetic Skeletal Disorders: 2019 Revision.” (Mortier et al. 2019. PubMed ID: 31633310) along with some other genes that are known to be implicated in a variety of skeletal conditions by literature search.

Genetic skeletal disorders are genetically heterogenous and can be inherited in an autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL) manner.

The majority of the genes in this panel have no or very few large deletions/duplications reported. But for some genes, deletion/duplication testing detection rates are relatively high. 16 to 25% of reported pathogenic variants in NSD1NSDHLTRAPPC2ARSE, and TRPS1 genes are large deletions/duplications (Human Gene Mutation Database). 16p13.3 microdeletions (ranging from 3.3kb to 3900kb) involving CREBBP were found 17 out of 83 patients with typical features of Rubinstein–Taybi syndrome using array CGH and quantitative multiplex fluorescent-PCR (Stef et al. 2007. PubMed ID: 17473832). The majority of reported variants in NPPC and SULF1 genes are gross deletions or complex rearrangements (Human Gene Mutation Database).

See individual gene test descriptions for information on molecular biology of gene products, and spectra of pathogenic variants.

Testing Strategy

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

This panel typically provides 98% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Some genes have multiple copies in the haploid genome. In these cases, we may only analyze part of these genes. For example, exons 32 to 44 of the TNXB gene are highly homologous to the pseudogene TNXA, therefore, this region cannot be accurately analyzed in this NGS panel.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Reporting: Reports will consist of two different sections:

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

All differences from the reference sequences (sequence variants) are assigned to one of five interpretation categories (Pathogenic, Likely Pathogenic, Variant of Uncertain Significance, Likely Benign and Benign) per ACMG Guidelines (Richards et al. 2015. PubMed ID: 25741868). Pathogenic, Likely Pathogenic and Variants of Uncertain Significance considered to contribute to the proband's phenotype will be reported in the first and second sections. 

Human Genome Variation Society (HGVS) recommendations are used to denote sequence variants (http://www.hgvs.org).

Clinical Sensitivity - Sequencing with CNV

COL3A1 pathogenic variants have been identified in approximately 95% of individuals with Ehlers Danlos Syndrome IV (Pepin et al. 2014. PubMed ID: 24922459). COL5A1 or COL5A2 pathogenic variants have been identified in at least 50% of affected individuals with classic EDS (Malfait et al. 2011. PubMed ID: 20301422).

Causative variants in COL2A1 and COL11A1 account for 80-90% and 10-20% of variants identified in autosomal dominant Stickler syndrome, respectively (Robin et al. 2014. PubMed ID: 20301479).

Sequence analysis can detect CREBBP pathogenic variants in 40%-50% of Rubinstein-Taybi syndrome cases. Pathogenic variants in EP300 are identified in ~3%-8% of patients with Rubinstein–Taybi syndrome (Stevens and Stevens. 2014. PubMed ID: 20301699).

TCOF1 pathogenic variants were found in ~70% of clinical diagnosed Treacher Collins Syndrome cases, and large deletions are ~5% of reported TCOF1 pathogenic variants (Bowman et al. 2012. PubMed ID: 22317976; Katsanis and Jabs. 2012. PubMed ID: 20301704).

Approximately 61% (111/182) of 182 Spanish craniosynostosis probands harbor a pathogenic variant in one of the FGFR2, FGFR3, TWIST1 and TCF12 genes. Pathogenic variants in FGFR2, FGFR3, TWIST and TCF12 account for 36%, 16%, 8% and 3% of pathogenic variants identified in this study, respectively (Paumard-Hernández et al. 2015. PubMed ID: 25271085).

One study reported that six unique FGFR1 pathogenic missense variants were found in seven unrelated patients affected with Hartsfield syndrome (Simonis et al. 2013. PubMed ID: 23812909).

TCF12 explains 32% and 10% of patients affected with bilateral and unilateral Craniosynostosis, respectively (Sharma et al. 2013. PubMed ID: 23354436).

Over 70% of all Cornelia de Lange Syndrome patients harbor a pathogenic variant in NIPBL, SMC3, RAD21, SMC1A, or HDAC8 (Boyle et al. 2015. PubMed ID: 25209348).

For other condition-related clinical sensitivities, please refer to individual gene test descriptions or to smaller disorder-specific panels.

Indications for Test

Patients with skeletal abnormalities and joint problems should be considered. This panel offers testing for the following and many other conditions: Arthrogryposis, Apert Syndrome, Adams-Oliver Syndrome, Chondrodysplasia Punctata , Cleidocranial Dysostosis, Cranioectodermal Dysplasia, Exostoses, Stickler syndrome, Ehlers-Danlos Syndrome, Larsen Syndrome, Multiple Epiphyseal Dysplasia, Spondylocostal Dysostosis, Spondyloepimetaphyseal Dysplasia, Hypophosphatemic Rickets, Klippel-Feil Syndrome, Aarskog Syndrome, Meier-Gorlin Syndrome, Frontonasal Dysplasia, Mandibuloacral Dysplasia, Treacher Collins Syndrome, Miller Syndrome, Floating-Harbor Syndrome, Osteogenesis Imperfecta, Polydactyly/Brachydactyly/Syndactyly, Ellis-van Creveld Syndrome, TP63-related conditions, Van Der Woude Syndrome, FGFR3-related conditions, Craniosynostosis, 3-M Syndrome, Holt-Oram Syndrome, Cornelia de Lange syndrome and Cornelia de Lange –related conditions, Short-Rib Thoracic Dysplasia, Rubinstein-Taybi Syndrome, Marfan Syndrome, Sotos Syndrome, Mucopolysaccharidoses, Patellar Dysostoses, and Ulnar-Mammary Syndrome.

Genes

Official Gene Symbol OMIM ID
ACAN 155760
ACP5 171640
ACTA2 102620
ACVR1 102576
ADAMTS10 608990
ADAMTS17 607511
ADAMTS2 604539
ADAMTSL2 612277
ADAMTSL4 610113
AEBP1 602981
AFF4 604417
AGA 613228
AGPS 603051
AHI1 608894
AIFM1 300169
AKT1 164730
AKT3 611223
ALDH18A1 138250
ALDH1A3 600463
ALDH2 100650
ALPL 171760
ALX1 601527
ALX3 606014
ALX4 605420
AMER1 300647
ANKH 605145
ANKRD11 611192
ANO5 608662
ANTXR2 608041
APC2 612034
ARCN1 600820
ARHGAP31 610911
ARID1A 603024
ARID1B 614556
ARL13B 608922
ARL6 608845
ARMC9 617612
ARSB 611542
ARSE 300180
ASCC1 614215
ASPM 605481
ASTN2 612856
ASXL1 612990
ASXL3 615115
ATP6AP1 300197
ATP6V0A2 611716
ATP6V1A 607027
ATP6V1E1 108746
ATP7A 300011
ATR 601215
ATRIP 606605
B3GALT6 615291
B3GAT3 606374
B4GALT7 604327
B9D1 614144
B9D2 611951
BBIP1 613605
BBS1 209901
BBS10 610148
BBS12 610683
BBS2 606151
BBS4 600374
BBS5 603650
BBS7 607590
BBS9 607968
BCO1 605748
BCOR 300485
BGN 301870
BHLHA9 615416
BMP1 112264
BMP2 112261
BMP4 112262
BMPER 608699
BMPR1B 603248
BRCA2 600185
BRD4 608749
BRIP1 605882
BTRC 603482
C1R 613785
C1S 120580
C8orf37 614477
CA2 611492
CACNA1C 114205
CADPS 604667
CANT1 613165
CASR 601199
CBS 613381
CC2D2A 612013
CCBE1 612753
CCDC8 614145
CCND2 123833
CCNQ 300708
CDC45 603465
CDC6 602627
CDC73 607393
CDH1 192090
CDH11 600023
CDH3 114021
CDK5RAP2 608201
CDK9 603251
CDKN1C 600856
CDT1 605525
CENPE 117143
CENPJ 609279
CEP104 616690
CEP120 613446
CEP152 613529
CEP164 614848
CEP290 610142
CEP41 610523
CEP55 610000
CFAP410 603191
CHD7 608892
CHST11 610128
CHST14 608429
CHST3 603799
CHSY1 608183
CHUK 600664
CIBAR1 617273
CILK1 612325
CKAP2L 616174
CLCN5 300008
CLCN7 602727
CNOT2 604909
COG1 606973
COG4 606976
COL10A1 120110
COL11A1 120280
COL11A2 120290
COL12A1 120320
COL1A1 120150
COL1A2 120160
COL27A1 608461
COL2A1 120140
COL3A1 120180
COL5A1 120215
COL5A2 120190
COL9A1 120210
COL9A2 120260
COL9A3 120270
COMP 600310
COX4I1 123864
CPLANE1 614571
CREB3L1 616215
CREBBP 600140
CRIPT 604594
CRTAP 605497
CSGALNACT1 616615
CSPP1 611654
CTCF 604167
CTNND1 601045
CTSA 613111
CTSK 601105
CTU2 617057
CUL7 609577
CYP26B1 605207
CYP27B1 609506
CYP2R1 608713
DDR2 191311
DDRGK1 616177
DDX58 609631
DDX59 615464
DHCR24 606418
DHCR7 602858
DHODH 126064
DIP2C 611380
DLL3 602768
DLL4 605185
DLX3 600525
DLX5 600028
DLX6 600030
DMP1 600980
DNA2 601810
DNAJC21 617048
DNMT3A 602769
DOCK6 614194
DPF2 601671
DSE 605942
DVL1 601365
DVL2 602151
DVL3 601368
DYM 607461
DYNC1I1 603772
DYNC2H1 603297
DYNC2LI1 617083
EBP 300205
EDN1 131240
EDNRA 131243
EFEMP2 604633
EFL1 617538
EFNB1 300035
EFTUD2 603892
EHHADH 607037
EIF2AK3 604032
ELN 130160
ENPP1 173335
EOGT 614789
EP300 602700
ERCC4 133520
ERF 611888
ESCO2 609353
ESPL1 604143
EVC 604831
EVC2 607261
EXOC6B 607880
EXT1 608177
EXT2 608210
EXTL3 605744
EYA1 601653
EZH2 601573
FAM111A 615292
FAM20C 611061
FAM98C 0
FANCA 607139
FANCB 300515
FANCC 613899
FANCD2 613984
FANCE 613976
FANCF 613897
FANCG 602956
FANCI 611360
FANCM 609644
FAR1 616107
FAT1 600976
FBLN1 135820
FBLN5 604580
FBN1 134797
FBN2 612570
FBXL4 605654
FBXW11 605651
FBXW4 608071
FDFT1 184420
FERMT3 607901
FGD1 300546
FGF10 602115
FGF16 300827
FGF23 605380
FGF8 600483
FGF9 600921
FGFR1 136350
FGFR2 176943
FGFR3 134934
FIG4 609390
FKBP10 607063
FKBP14 614505
FLNA 300017
FLNB 603381
FMN1 136535
FN1 135600
FOXE3 601094
FRAS1 607830
FREM1 608944
FREM2 608945
FUCA1 612280
FUZ 610622
FZD2 600667
GALNS 612222
GALNT3 601756
GDF3 606522
GDF5 601146
GDF6 601147
GGCX 137167
GHSR 601898
GJA1 121014
GLB1 611458
GLI1 165220
GLI2 165230
GLI3 165240
GMNN 602842
GNAI3 139370
GNAS 139320
GNPAT 602744
GNPTAB 607840
GNPTG 607838
GNS 607664
GON4L 610393
GORAB 607983
GPAA1 603048
GPC3 300037
GPC4 300168
GPC6 604404
GPX4 138322
GREM1 603054
GRHL2 608576
GRHL3 608317
GRIN2B 138252
GSC 138890
GUSB 611499
GZF1 613842
HAAO 604521
HDAC4 605314
HDAC8 300269
HES7 608059
HGSNAT 610453
HNF4A 600281
HNRNPK 600712
HOXA1 142955
HOXA11 142958
HOXA13 142959
HOXD13 142989
HPGD 601688
HRAS 190020
HSPA9 600548
HSPG2 142461
HYAL2 603551
IARS2 612801
IDH1 147700
IDH2 147650
IDS 300823
IDUA 252800
IFIH1 606951
IFITM5 614757
IFT122 606045
IFT140 614620
IFT172 607386
IFT27 615870
IFT43 614068
IFT52 617094
IFT74 608040
IFT80 611177
IFT81 605489
IGF1 147440
IGF1R 147370
IHH 600726
IL11RA 600939
IMPAD1 614010
INPP5E 613037
INPPL1 600829
INTU 610621
IQCE 617631
IRF6 607199
KAT6A 601408
KAT6B 605880
KATNB1 602703
KCNN3 602983
KCTD1 613420
KDM1A 609132
KDM5B 605393
KDM6A 300128
KDM6B 611577
KIAA0556 616650
KIAA0586 610178
KIAA0753 617112
KIAA0825 617266
KIAA1109 611565
KIF14 611279
KIF22 603213
KIF7 611254
KL 604824
KMT2A 159555
KMT2D 602113
KYNU 605197
LARP7 612026
LBR 600024
LBX1 604255
LEMD3 607844
LFNG 602576
LHX4 602146
LIFR 151443
LIG4 601837
LMBR1 605522
LMNA 150330
LMX1B 602575
LONP1 605490
LOX 153455
LRP4 604270
LRP5 603506
LRRK1 610986
LTBP2 602091
LTBP4 604710
LZTFL1 606568
LZTS1 606551
MAB21L2 604357
MAD2L2 604094
MAFB 608968
MAN2B1 609458
MANBA 609489
MAP2K1 176872
MAP3K20 609479
MAP3K7 602614
MASP1 600521
MAT2A 601468
MATN3 602109
MBL2 154545
MBTPS2 300294
MCPH1 607117
MECOM 165215
MED12 300188
MEGF8 604267
MEIS2 601740
MEOX1 600147
MEPE 605912
MESD 607783
MESP2 605195
MFAP5 601103
MGP 154870
MIR17HG 609415
MKKS 604896
MKS1 609883
MMP13 600108
MMP14 600754
MMP2 120360
MMP9 120361
MNX1 142994
MSL3 300609
MSX1 142983
MSX2 123101
MYCN 164840
MYH11 160745
MYH3 160720
MYH8 160741
MYLK 600922
MYO18B 607295
NAA10 300013
NAGLU 609701
NANS 605202
NBAS 608025
NECTIN4 609607
NEDD4L 606384
NEK1 604588
NEK9 609798
NEU1 608272
NF1 613113
NFIX 164005
NIN 608684
NIPBL 608667
NKX3-2 602183
NLRP3 606416
NOG 602991
NOTCH1 190198
NOTCH2 600275
NPHP1 607100
NPHP3 608002
NPPC 600296
NPR2 108961
NPR3 108962
NRXN1 600565
NSD1 606681
NSDHL 300275
NSMCE2 617246
NSUN2 610916
NTRK1 191315
NXN 612895
OBSL1 610991
OFD1 300170
ORC1 601902
ORC4 603056
ORC6 607213
OSTM1 607649
P3H1 610339
P4HB 176790
PACS1 607492
PALB2 610355
PAM16 614336
PAPSS2 603005
PAX3 606597
PAX8 167415
PCGF2 600346
PCNT 605925
PCYT1A 123695
PDE3A 123805
PDE4D 600129
PDE6D 602676
PDGFC 608452
PDGFRB 173410
PEX5 600414
PEX7 601757
PGAP3 611801
PHEX 300550
PHF6 300414
PHGDH 606879
PIEZO2 613629
PIGN 606097
PIGV 610274
PIK3CA 171834
PIK3R2 603157
PISD 612770
PITX1 602149
PITX2 601542
PLCB4 600810
PLEKHA5 607770
PLEKHA7 612686
PLK4 605031
PLOD1 153454
PLOD2 601865
PLOD3 603066
PLP1 300401
PLS3 300131
POC1A 614783
POLD3 611415
POLE 174762
POLR1A 616404
POLR1C 610060
POLR1D 613715
POP1 602486
POR 124015
PORCN 300651
PPIB 123841
PRDM5 614161
PRKAR1A 188830
PRKG1 176894
PROK2 607002
PTDSS1 612792
PTH1R 168468
PTHLH 168470
PTPN11 176876
PYCR1 179035
RAB23 606144
RAB33B 605950
RAC1 602048
RAC3 602050
RAD21 606462
RAD51 179617
RAD51C 602774
RAP1A 179520
RAP1B 179530
RBBP8 604124
RBM8A 605313
RBPJ 147183
RECQL4 603780
RIN2 610222
RIPK4 605706
RIPPLY2 609891
RMRP 157660
RNU4ATAC 601428
ROR2 602337
RPGRIP1L 610937
RPL13 113703
RSPRY1 616585
RTTN 610436
RUNX2 600211
SALL1 602218
SALL4 607343
SBDS 607444
SBF1 603560
SCN1A 182389
SDCCAG8 613524
SEC24D 607186
SEM1 183600
SERPINF1 172860
SERPINH1 600943
SETD2 612778
SETD5 615743
SF3B4 605593
SFRP4 606570
SGCE 604149
SGMS2 611574
SGSH 605270
SH3BP2 602104
SH3PXD2B 613293
SHH 600725
SIX1 601205
SIX5 600963
SKI 164780
SLC10A7 611459
SLC17A5 604322
SLC25A21 607571
SLC25A24 608744
SLC26A2 606718
SLC29A3 612373
SLC2A10 606145
SLC2A2 138160
SLC34A1 182309
SLC34A3 609826
SLC35D1 610804
SLC39A13 608735
SLC9A3R1 604990
SLCO2A1 601460
SLCO5A1 613543
SLX4 613278
SMAD2 601366
SMAD3 603109
SMAD4 600993
SMARCA4 603254
SMARCAD1 612761
SMARCAL1 606622
SMARCB1 601607
SMARCE1 603111
SMC1A 300040
SMC3 606062
SMO 601500
SMOC1 608488
SMS 300105
SNRPB 182282
SNX10 614780
SOST 605740
SOX11 600898
SOX9 608160
SP7 606633
SPARC 182120
SPECC1L 614140
SQSTM1 601530
SRCAP 611421
SRP54 604857
STAG2 300826
SUCO 0
SULF1 610012
SUMF1 607939
SYT1 185605
TAB2 605101
TAF1 313650
TAF6 602955
TALDO1 602063
TAPT1 612758
TBCE 604934
TBX1 602054
TBX15 604127
TBX3 601621
TBX4 601719
TBX5 601620
TBX6 602427
TBXAS1 274180
TCF12 600480
TCIRG1 604592
TCOF1 606847
TCTEX1D2 617353
TCTN1 609863
TCTN2 613846
TCTN3 613847
TENT5A 611357
TFAP2A 107580
TFAP2B 601601
TGDS 616146
TGFB1 190180
TGFB2 190220
TGFB3 190230
TGFBR1 190181
TGFBR2 190182
THPO 600044
TKT 606781
TMEM107 616183
TMEM138 614459
TMEM165 614726
TMEM216 613277
TMEM231 614949
TMEM237 614423
TMEM38B 611236
TMEM67 609884
TNFRSF11A 603499
TNFRSF11B 602643
TNFRSF1A 191190
TNFSF11 602642
TNNT3 600692
TNXB 600985
TONSL 604546
TP63 603273
TRAF3IP1 607380
TRAIP 605958
TRAPPC2 300202
TRAPPC6A 610396
TREM2 605086
TRIM32 602290
TRIP11 604505
TRIP4 604501
TRNT1 612907
TRPS1 604386
TRPV4 605427
TRPV6 606680
TTC21B 612014
TTC28 615098
TTC8 608132
TUBGCP6 610053
TWIST1 601622
TXNL4A 611595
TYROBP 604142
UBE2T 610538
VAC14 604632
VDR 601769
VPS33A 610034
WASHC5 610657
WDPCP 613580
WDR19 608151
WDR26 617424
WDR34 613363
WDR35 613602
WDR37 618586
WDR4 605924
WDR60 615462
WISP3 603400
WNT1 164820
WNT10B 601906
WNT3 165330
WNT3A 606359
WNT5A 164975
WNT7A 601570
XRCC2 600375
XRCC4 194363
XYLT1 608124
XYLT2 608125
YY1AP1 607860
ZBTB18 608433
ZIC1 600470
ZMPSTE24 606480
ZNF141 194648
ZNF469 612078
ZNF668 617103
ZSWIM6 615951
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
3-M Syndrome AR 614205
3MC syndrome 1 AR 257920
Aarskog Syndrome XL 305400
Acheiropody AR 200500
Achondrogenesis Type 2 AD 200610
Achondrogenesis, Type Ia AR 200600
Achondrogenesis, Type Ib AR 600972
Achondroplasia AD 100800
Acrocallosal Syndrome, Schinzel Type AR 200990
Acrocapitofemoral Dysplasia AR 607778
Acrodysostosis AD 101800
Acrodysostosis 2, with or without Hormone Resistance AD 614613
Acrofacial Dysostosis 1, Nager Type AD 154400
Acrofacial dysostosis, Cincinnati type AD 616462
Acromelic frontonasal dysostosis AD 603671
Acromesomelic Dysplasia Hunter Thompson Type AR 201250
Acromesomelic Dysplasia Maroteaux Type AR 602875
Acromicric Dysplasia AD 102370
ACTH-independent macronodular adrenal hyperplasia 219080
Adams-Oliver Syndrome 1 AD 100300
Adams-Oliver Syndrome 2 AR 614219
Adams-Oliver Syndrome 3 AD 614814
Adams-Oliver Syndrome 4 AR 615297
Adams-Oliver Syndrome 5 AD 616028
Adams-Oliver Syndrome 6 AD 616589
Adult Hypophosphatasia AR 146300
ADULT Syndrome AD 103285
Al-Gazali syndrome AR 609465
Al-Gazali-Bakalinova syndrome AR 607131
Alazami Syndrome AR 615071
Alazami-Yuan Syndrome AR 617126
Alkuraya-Kucinskas syndrome AR 617822
Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome AR 601360
Amelogenesis Imperfecta, Type IV AD 104510
Aml - Acute Myeloid Leukemia 601626
Amyotrophic Lateral Sclerosis Type 11 AD 612577
Anauxetic Dysplasia AR 607095
Anauxetic dysplasia 2 AR 617396
Antley-Bixler Syndrome AD 207410
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis AR 201750
Aortic Aneurysm, Familial Thoracic 10 AD 617168
Aortic Aneurysm, Familial Thoracic 6 AD 611788
Aortic Aneurysm, Familial Thoracic 9 AD 616166
Apert Syndrome AD 101200
Aphakia, Congenital Primary AR 610256
Aplasia Of Lacrimal And Salivary Glands AD 180920
Arterial Calcification Of Infancy AR 208000
Arterial Tortuosity Syndrome AR 208050
Arthrogryposis, distal, type 2B2 AD 618435
Arthrogryposis, distal, type 2B3 (Sheldon-Hall) AD 618436
Arthrogryposis, Distal, Type 3 AD 114300
Arthrogryposis, Distal, Type 5 AD 108145
Arthrogryposis, Distal, Type 7 AD 158300
Arthrogryposis, Distal, Type 8 AD 178110
Arthrogryposis, Distal, with Impaired Proprioception and Touch AR 617146
Arthrogryposis, Perthes disease, and upward gaze palsy AR 614262
Aspartylglycosaminuria AR 208400
Atelosteogenesis, type I AD 108720
Atelosteogenesis, Type II AR 256050
Atelosteogenesis, type III AD 108721
Athabaskan Brainstem Dysgenesis AR 601536
Au-Kline syndrome AD 616580
Auriculocondylar syndrome 1 AD 602483
Auriculocondylar syndrome 2 AR 614669
Auriculocondylar syndrome 3 AR 615706
Autosomal Recessive Cutis Laxa Type 3A AR 219150
Autosomal Recessive Hypophosphatemic Bone Disease AR 241530
Avascular Necrosis Of Femoral Head, Primary AD 608805
Avascular necrosis of femoral head, primary, 2 AD 617383
Bainbridge-Ropers Syndrome AD 615485
Baker-Gordon syndrome AD 618218
Baller-Gerold Syndrome AR 218600
Bardet-Biedl Syndrome 1 AR 209900
Bardet-Biedl Syndrome 10 AR 615987
Bardet-Biedl Syndrome 11 AR 615988
Bardet-Biedl Syndrome 12 AR 615989
Bardet-Biedl Syndrome 13 AR 615990
Bardet-Biedl Syndrome 14 AR 615991
Bardet-Biedl Syndrome 15 AR 615992
Bardet-Biedl Syndrome 16 AR 615993
Bardet-Biedl Syndrome 17 AR 615994
Bardet-Biedl Syndrome 18 AR 615995
Bardet-Biedl Syndrome 19 AR 615996
Bardet-Biedl Syndrome 2 AR 615981
Bardet-Biedl Syndrome 20 AR 617119
Bardet-Biedl Syndrome 21 AR 617406
Bardet-Biedl Syndrome 3 AR 600151
Bardet-Biedl Syndrome 4 AR 615982
Bardet-Biedl Syndrome 5 AR 615983
Bardet-Biedl Syndrome 6 AR 605231
Bardet-Biedl Syndrome 7 AR 615984
Bardet-Biedl Syndrome 8 AR 615985
Bardet-Biedl Syndrome 9 AR 615986
Basan syndrome AD 129200
Basilicata-Akhtar syndrome XL 301032
Beckwith-Wiedemann Syndrome AD 130650
Bent bone dysplasia syndrome AD 614592
Beta-D-Mannosidosis AR 248510
Bifid Nose With Or Without Anorectal And Renal Anomalies 608980
Blepharocheilodontic syndrome 1 AD 119580
Blepharocheilodontic syndrome 2 AD 617681
Bohring-Opitz Syndrome AD 605039
Bone Fragility With Contractures, Arterial Rupture, And Deafness AR 612394
Bone Marrow Failure Syndrome 3 AR 617052
Bone Mineral Density QTL18, Osteoporosis XL 300910
Bone Mineral Density Quantitative Trait Locus 1 AD 601884
Boomerang Dysplasia AD 112310
Borjeson-Forssman-Lehmann Syndrome XL 301900
Brachydactyly Type A1 AD 112500
Brachydactyly Type A2 AD 112600
Brachydactyly Type C AD 113100
Brachydactyly, type A1, C AR 615072
Brachydactyly, Type A1, D AD 616849
Brachydactyly, Type B1 AD 113000
Brachydactyly, Type B2 AD 611377
Brachydactyly, Type D AD 113200
Brachydactyly, Type E1 AD 113300
Brachydactyly, Type E2 AD 613382
Brachydactyly-Syndactyly Syndrome 610713
Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes AR 612847
Brachyolmia Type 3 AD 113500
Branchiooculofacial Syndrome AD 113620
Branchiootic syndrome 1 AD 602588
Branchiootorenal Syndrome 1, with or without Cataracts AD 113650
Bruck syndrome 1 AR 259450
Bruck Syndrome 2 AR 609220
Burn-McKeown Syndrome AR 608572
Caffey Disease AD 114000
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia AD 126550
Camptodactyly, Tall Stature, And Hearing Loss Syndrome AD, AR 610474
Camptomelic Dysplasia AD 114290
Camptosynpolydactyly, Complex AR 607539
Camurati-Engelmann Disease AD 131300
Cardiofaciocutaneous syndrome 3 AD 615279
Cardiospondylocarpofacial Syndrome AD 157800
Carpenter Syndrome AR 201000
Carpenter Syndrome 2 AR 614976
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia AR 616007
Catel-Manzke Syndrome AR 616145
Centronuclear myopathy 6 with fiber-type disproportion AR 617760
Cerebrocostomandibular syndrome AD 117650
Cervical Cancer 603956
CHAND syndrome AR 214350
Char Syndrome AD 169100
Charcot-Marie-Tooth Disease Type 2C AD 606071
Charcot-Marie-Tooth Disease, Type 4B3 AR 615284
CHARGE Association AD 214800
Cherubism AD 118400
Child Syndrome XL 308050
Childhood Hypophosphatasia AR 241510
Chitayat Syndrome AD 617180
Chondrocalcinosis 2 AD 118600
Chondrodysplasia Acromesomelic With Genital Anomalies AR 609441
Chondrodysplasia Blomstrand Type AR 215045
Chondrodysplasia Punctata 1, X-Linked Recessive XL 302950
Chondrodysplasia Punctata 2 X-Linked Dominant XL 302960
Chondrodysplasia with Joint Dislocations, Gpapp Type AR 614078
Chondrosarcoma 215300
CHOPS Syndrome AD 616368
Chronic Infantile Neurological, Cutaneous And Articular Syndrome AD 607115
CK syndrome XL 300831
Cleft palate, cardiac defects, and mental retardation AD 600987
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features AD 616728
Cleidocranial Dysostosis AD 119600
COACH Syndrome AR 216360
Cocoon Syndrome 613630
CODAS syndrome AR 600373
Coffin-Siris Syndrome 1 AD 135900
Coffin-Siris Syndrome 2 AD 614607
Coffin-Siris Syndrome 3 AD 614608
Coffin-Siris Syndrome 4 AD 614609
Coffin-Siris Syndrome 5 AD 616938
Coffin-Siris syndrome 7 AD 618027
Cole Disease AD 615522
Cole-Carpenter Syndrome 1 AD 112240
Cole-Carpenter Syndrome 2 AR 616294
Combined Oxidative Phosphorylation Deficiency 6 XL 300816
Complement Component c1s Deficiency 613783
Congenital Contractural Arachnodactyly AD 121050
Congenital Disorder Of Glycosylation Type 2G AR 611209
Congenital Disorder Of Glycosylation Type IIj AR 613489
Congenital Disorder of Glycosylation Type IIk AR 614727
Congenital heart defects, hamartomas of tongue, and polysyndactyly AR 217085
Congenital heart defects, nonsyndromic, 2 AD 614980
Contractures, pterygia, and variable skeletal fusions syndrome 1B AR 618469
Cornelia de Lange syndrome 1 AD 122470
Cornelia de Lange syndrome 2 XL 300590
Cornelia de Lange syndrome 3 AD 610759
Cornelia de Lange syndrome 4 AD 614701
Cornelia de Lange syndrome 5 XL 300882
Cortical dysplasia, complex, with other brain malformations 10 AR 618677
Cousin Syndrome AR 260660
Cowchock Syndrome XL 310490
Cowden syndrome 5 615108
Cowden syndrome 6 615109
Craniodiaphyseal Dysplasia, Autosomal Dominant AD 122860
Cranioectodermal Dysplasia AR 218330
Cranioectodermal Dysplasia 2 AR 613610
Cranioectodermal Dysplasia 3 AR 614099
Cranioectodermal Dysplasia 4 AR 614378
Craniofacial Deafness Hand Syndrome AD 122880
Craniofrontonasal Dysplasia XL 304110
Craniometaphyseal Dysplasia, Autosomal Dominant AD 123000
Craniometaphyseal dysplasia, autosomal recessive AR 218400
Craniosynostosis 3 AD 615314
Craniosynostosis 4 AD 600775
Craniosynostosis 5, Susceptibility to AD 615529
Craniosynostosis 6 AD 616602
Craniosynostosis And Dental Anomalies AR 614188
Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 614416
Craniosynostosis, Type 1 AD 123100
Craniosynostosis, Type 2 AD 604757
Crouzon Syndrome AD 123500
Crouzon Syndrome With Acanthosis Nigricans AD 612247
Culler-Jones Syndrome AD 615849
Currarino Syndrome AD 176450
Curry-Jones syndrome, somatic mosaic 601707
Cushing's Symphalangism AD 185800
Cutis Gyrata Syndrome Of Beare And Stevenson AD 123790
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities AR 613177
Cutis Laxa, Autosomal Dominant AD 123700
Cutis Laxa, Autosomal Dominant 2 AD 614434
Cutis Laxa, Autosomal Dominant 3 AD 616603
Cutis Laxa, Autosomal Recessive, Type IA AR 219100
Cutis Laxa, Autosomal Recessive, Type IB AR 614437
Cutis Laxa, Autosomal Recessive, Type IIA AR 219200
Cutis Laxa, Autosomal Recessive, Type IIB AR 612940
Cutis Laxa, Autosomal Recessive, Type IIC AR 617402
Cutis Laxa, Autosomal Recessive, Type IID AR 617403
Cutis Laxa, Autosomal Recessive, Type IIIB 614438
Czech Dysplasia Metatarsal Type AD 609162
Deafness, Autosomal Dominant 13 AD 601868
Deafness, autosomal dominant 37 AD 618533
Deafness, Autosomal Recessive 53 AR 609706
Deafness, X-Linked 5 XL 300614
Deficiency Of Alpha-Mannosidase AR 248500
Dent Disease 1 XL 300009
Dermatofibrosis Lenticularis Disseminata AD 166700
Desbuquois Dysplasia 2 AR 615777
Desbuquois Syndrome AR 251450
Desmosterolosis AR 602398
Diaphanospondylodysostosis AR 608022
Diastrophic Dysplasia AR 222600
Digeorge Sequence AD 188400
Digital Clubbing, Isolated Congenital AR 119900
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency 613571
Duane retraction syndrome 3 AD 617041
Duane-Radial Ray Syndrome AD 607323
Dyggve-Melchior-Clausen Syndrome AD 223800
Dyssegmental Dysplasia Silverman-Handmaker Type AR 224410
Ectodermal Dysplasia 3, Witkop Type AD 189500
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy AR 225280
Ectodermal Dysplasia-Syndactyly Syndrome 1 AR 613573
Ectodermal Dysplasia/Short Stature Syndrome AR 616029
Ectopia lentis et pupillae AR 225200
Ectopia Lentis, Isolated Autosomal Recessive AR 225100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 AD 604292
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss AR 614557
Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies AR 130070
Ehlers-Danlos syndrome, arthrochalasia type, 2 AD 617821
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form AR 225320
Ehlers-Danlos Syndrome, Classic Like, 2 AR 618000
Ehlers-Danlos Syndrome, Hydroxylysine-Deficient AR 225400
Ehlers-Danlos Syndrome, Musculocontractural Type AR 601776
Ehlers-Danlos Syndrome, Musculocontractural Type 2 AR 615539
Ehlers-Danlos Syndrome, Periodontal Type, 2 AD 617174
Ehlers-Danlos Syndrome, Progeroid Type, 2 AR 615349
Ehlers-Danlos Syndrome, Type 1 AD 130000
Ehlers-Danlos Syndrome, Type 2 AD 130010
Ehlers-Danlos Syndrome, Type 4 AD 130050
Ehlers-Danlos Syndrome, Type VIIA and VIIB AD 130060
Ehlers-Danlos Syndrome, Type VIIC AR 225410
Ehlers-Danlos Syndrome, Type VIII AD 130080
Ehlers-Danlos-Like Syndrome Due To Tenascin-X Deficiency AR 606408
Eiken Skeletal Dysplasia AR 600002
Ellis-van Creveld Syndrome 225500
Elsahy-Waters syndrome AR 211380
Endocrine-Cerebroosteodysplasia AR 612651
Epiphyseal chondrodysplasia, Miura type AD 615923
Epiphyseal dysplasia, multiple, 7 AR 617719
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness AD 132450
Even-plus syndrome AR 616854
Exostoses, Multiple, Type I AD 133700
Exostoses, Multiple, Type II AD 133701
Exudative Vitreoretinopathy 4 AR 601813
Fallot Tetralogy AD 187500
Familial Amyloid Nephropathy With Urticaria And Deafness AD 191900
Familial Benign Hypercalcemia AD 145980
Familial digital arthropathy with brachydactyly AD 606835
Fanconi Anemia, Complementation Group A AR 227650
Fanconi Anemia, Complementation Group B XL 300514
Fanconi Anemia, Complementation Group C AR 227645
Fanconi Anemia, Complementation Group D1 AR 605724
Fanconi Anemia, Complementation Group D2 AR 227646
Fanconi Anemia, Complementation Group E AR 600901
Fanconi Anemia, Complementation Group F 603467
Fanconi Anemia, Complementation Group G 614082
Fanconi Anemia, Complementation Group I AR 609053
Fanconi Anemia, Complementation Group J 609054
Fanconi Anemia, Complementation Group N 610832
Fanconi Anemia, Complementation Group O AR 613390
Fanconi Anemia, Complementation Group P AR 613951
Fanconi anemia, Complementation Group Q AR 615272
Fanconi Anemia, Complementation Group R AD 617244
Fanconi Anemia, Complementation Group T AR 616435
Fanconi Anemia, Complementation Group U AR 617247
Fanconi Anemia, Complementation Group V AR 617243
Fanconi Renotubular Syndrome 2 AR 613388
Fanconi renotubular syndrome 3 AD 615605
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young AD 616026
Fanconi-Bickel Syndrome AR 227810
Feingold Syndrome 1 AD 164280
Feingold Syndrome 2 AD 614326
Fg Syndrome XL 305450
FG Syndrome 2 XL 300321
Fibrochondrogenesis AR 228520
Fibrochondrogenesis 2 AR 614524
Fibrodysplasia Ossificans Progressiva AD 135100
Fibular Hypoplasia And Complex Brachydactyly AR 228900
Filippi syndrome AR 272440
FILS syndrome AR 615139
Floating-Harbor Syndrome AD 136140
Focal Dermal Hypoplasia XL 305600
Fontaine progeroid syndrome AD 612289
Frank Ter Haar Syndrome AR 249420
Fraser Syndrome AR 219000
Fraser Syndrome 2 AR 617666
Freeman-Sheldon Syndrome AD 193700
Frontometaphyseal Dysplasia XL 305620
Frontometaphyseal Dysplasia 2 AD 617137
Frontonasal Dysplasia AR 136760
Frontonasal Dysplasia 2 AR 613451
Frontonasal Dysplasia 3 AR 613456
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 AD 616437
Fucosidosis AR 230000
Fuhrmann Syndrome AR 228930
Galactosialidosis AR 256540
Galloway-Mowat syndrome 6 AR 618347
Gangliosidosis GM1 Type 3 AR 230650
Geleophysic Dysplasia AR 231050
Geleophysic Dysplasia 2 AD 614185
Genitopatellar Syndrome AD 606170
Geroderma Osteodysplasticum AR 231070
Ghosal Syndrome AR 231095
Glycosylphosphatidylinositol biosynthesis defect 15 AR 617810
Gnathodiaphyseal Dysplasia AD 166260
Gracile Bone Dysplasia AD 602361
Grange syndrome AR 602531
Grebe Syndrome AR 200700
Greenberg Dysplasia AR 215140
Greig Cephalopolysyndactyly Syndrome AD 175700
Growth Hormone Deficiency, Isolated Partial AR 615925
Hajdu-Cheney Syndrome AD 102500
Hand Foot Uterus Syndrome AD 140000
Hartsfield syndrome AD 615465
Hay-Wells Syndrome AD 106260
Heart-Hand Syndrome, Slovenian Type AD 610140
Hennekam Syndrome AR 235510
Hereditary Insensitivity To Pain With Anhidrosis AR 256800
Heyn-Sproul-Jackson syndrome AD 618724
Histiocytosis-lymphadenopathy plus syndrome AR 602782
Holoprosencephaly 13, X-linked XL 301043
Holoprosencephaly 9 AD 610829
Holt-Oram Syndrome AD 142900
Homocystinuria Due To Cbs Deficiency AR 236200
Huriez syndrome AD 181600
Hurler Syndrome AR 607014
Hyaline Fibromatosis Syndrome AR 228600
Hydrolethalus Syndrome 2 AR 614120
Hypercalcemia, infantile, 2 AR 616963
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant AD 115300
Hyperparathyroidism 1 AD 145000
Hyperparathyroidism 2 AD 145001
Hyperparathyroidism, Neonatal Severe Primary AR 239200
Hyperparathyroidism, transient neonatal AR 618188
Hyperphosphatasemia Tarda AR 239100
Hyperphosphatasemia With Bone Disease AR 239000
Hyperphosphatasia With Mental Retardation AR 239300
Hyperphosphatasia with mental retardation syndrome 4 AR 615716
Hypertelorism, Teebi type AD 145420
Hypertension and Brachydactyly Syndrome AD 112410
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 AR 614441
Hypocalcemia, autosomal dominant AD 601198
Hypochondroplasia AD 146000
Hypoparathyroidism Retardation Dysmorphism Syndrome AR 241410
Hypophosphatemic Rickets, Autosomal Dominant AD 193100
Hypophosphatemic Rickets, Autosomal Recessive, 2 AR 613312
Hypophosphatemic Rickets, X-Linked Dominant XL 307800
Hypophosphatemic Rickets, X-Linked Recessive XL 300554
Hypophosphatemic Vitamin D Refractory Rickets AR 241520
Hypopigmentation, organomegaly, and delayed myelination and development AD 618541
Hypoplastic or Aplastic Tibia with Polydactyly AD 188740
I Cell Disease AR 252500
Ichthyosis Follicularis Atrichia Photophobia Syndrome XL 308205
IMAGE Syndrome AD 614732
IMAGE-I syndrome AR 618336
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities AR 617425
Infantile Gm1 Gangliosidosis AR 230500
Infantile Hypophosphatasia AR 241500
Insulin-Like Growth Factor 1 Resistance To AR 270450
Insulin-Like Growth Factor I Deficiency AR 608747
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies AD 618608
Intervertebral Disc Disorder 603932
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked XL 300048
Ivic Syndrome AD 147750
Jackson-Weiss Syndrome AD 123150
Jawad syndrome AR 251255
Joint laxity, short stature, and myopia AR 617662
Joubert Syndrome AR 614615
Joubert Syndrome 1 AR 213300
Joubert Syndrome 10 XL 300804
Joubert Syndrome 13 AR 614173
Joubert syndrome 14 AR 614424
Joubert syndrome 15 AR 614464
Joubert syndrome 16 AR 614465
Joubert syndrome 18 AR 614815
Joubert Syndrome 2 AR 608091
Joubert syndrome 20 AR 614970
Joubert Syndrome 21 AR 615636
Joubert Syndrome 22 AR 615665
Joubert Syndrome 23 AR 616490
Joubert Syndrome 24 AR 616654
Joubert Syndrome 25 AR 616781
Joubert Syndrome 27 AR 617120
Joubert Syndrome 28 AR 617121
Joubert Syndrome 3 AR 608629
Joubert Syndrome 30 AR 617622
Joubert Syndrome 31 AR 617761
Joubert Syndrome 4 AR 609583
Joubert Syndrome 5 AR 610188
Joubert Syndrome 6 AR 610688
Joubert Syndrome 7 AR 611560
Joubert Syndrome 8 AR 612291
Joubert Syndrome 9 AR 612285
Juvenile GM1 Gangliosidosis AR 230600
Kabuki Syndrome 1 AD 147920
Kabuki Syndrome 2 XL 300867
Kallmann Syndrome 2 AD 147950
Kallmann Syndrome 4 AD 610628
KBG Syndrome AD 148050
Keipert syndrome XL 301026
Kenny-Caffey Syndrome Type 1 AR 244460
Kenny-Caffey Syndrome Type 2 AD 127000
Keratosis Follicularis Spinulosa Decalvans XL 308800
Keutel Syndrome AR 245150
Klippel-Feil Syndrome 1, Autosomal Dominant AD 118100
Klippel-Feil syndrome 2, autosomal recessive AR 214300
Klippel-Feil Syndrome 3, Autosomal Dominant 613702
Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism AR 616549
Kniest Dysplasia AD 156550
Kosaki overgrowth syndrome AD 616592
Lacrimoauriculodentodigital Syndrome 149730
Larsen Syndrome, Dominant Type AD 150250
Laurin-Sandrow Syndrome AD 135750
Leber Congenital Amaurosis 10 611755
Legg-Calve-Perthes Disease AD 150600
Lenz Microphthalmia Syndrome XL 309800
Lenz-Majewski Hyperostotic Dwarfism AD 151050
LEOPARD Syndrome AD 151100
Lethal congenital contracture syndrome 10 AR 617022
Leukocyte Adhesion Deficiency, Type III AR 612840
Liberfarb syndrome AR 618889
Liebenberg Syndrome AD 186550
Lig4 Syndrome AR 606593
Limb-Mammary Syndrome AD 603543
Lissencephaly 6, with microcephaly AR 616212
Loeys-Dietz Syndrome 1 AD 609192
Loeys-Dietz Syndrome 2 AD 610168
Loeys-Dietz Syndrome 3 AD 613795
Loeys-Dietz Syndrome 4 AD 614816
Loeys-Dietz Syndrome 5 AD 615582
Lowry-Wood syndrome AR 226960
Lujan-Fryns Syndrome XL 309520
Luscan-Lumish Syndrome AD 616831
Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis AR 613075
Macrodactyly, somatic 155500
Macular Degeneration, Early-Onset AD 616118
Malouf Syndrome AD 212112
Mandibuloacral Dysplasia With Type A Lipodystrophy AR 248370
Mandibuloacral Dysplasia With Type B Lipodystrophy AR 608612
Mandibulofacial dysostosis with alopecia AD 616367
Mandibulofacial dysostosis, Guion-Almeida type AD 610536
Manitoba Oculotrichoanal Syndrome AR 248450
Mannose-Binding Protein Deficiency AD 614372
Marden-Walker Syndrome AD 248700
Marfan lipodystrophy syndrome AD 616914
Marfan Syndrome AD 154700
Marshall Syndrome AD 154780
Marshall-Smith Syndrome AD 602535
Mass Syndrome AD 604308
Mckusick Kaufman Syndrome AR 236700
Meckel Syndrome 1 AR 249000
Meckel Syndrome 10 AR 614175
Meckel syndrome 11 AR 615397
Meckel Syndrome 12 AR 616258
Meckel Syndrome 13 AR 617562
Meckel Syndrome 2 AR 603194
Meckel Syndrome 3 AR 607361
Meckel Syndrome 4 AR 611134
Meckel Syndrome 5 AR 611561
Meckel Syndrome 6 AR 612284
Meckel Syndrome 7 AR 267010
Meckel Syndrome 8 AR 613885
Meckel Syndrome 9 AR 614209
Meester-Loeys syndrome XL 300989
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 AD 603387
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 AD 615937
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 AD 615938
Meier-Gorlin Syndrome 1 AR 224690
Meier-Gorlin Syndrome 2 AR 613800
Meier-Gorlin Syndrome 3 AR 613803
Meier-Gorlin Syndrome 4 AR 613804
Meier-Gorlin Syndrome 5 AR 613805
Meier-Gorlin syndrome 6 AD 616835
Meier-Gorlin syndrome 7 AR 617063
Melnick-Needles Syndrome XL 309350
MEND Syndrome XL 300960
Menke-Hennekam syndrome 1 AD 618332
Menke-Hennekam syndrome 2 AD 618333
Menkes Kinky-Hair Syndrome XL 309400
Mental Retardation, Autosomal Dominant 21 AD 615502
Mental retardation, autosomal dominant 22 AD 612337
Mental Retardation, Autosomal Dominant 23 AD 615761
Mental retardation, autosomal dominant 32 AD 616268
Mental retardation, autosomal dominant 48 AD 617751
Mental Retardation, Autosomal Dominant, 27 AD 615866
Mental retardation, autosomal recessive 5 AR 611091
Mental retardation, autosomal recessive 65 AR 618109
Mental Retardation, X-linked, Syndromic 33 XL 300966
Metacarpal 4-5 fusion XL 309630
Metachondromatosis AD 156250
Metaphyseal Anadysplasia 2 AR 613073
Metaphyseal Chondrodysplasia, Jansen Type AD 156400
Metaphyseal Chondrodysplasia, Mckusick Type AR 250250
Metaphyseal Chondrodysplasia, Schmid Type AD 156500
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly AD 156510
Metaphyseal Dysplasia Without Hypotrichosis AR 250460
Metaphyseal Dysplasia, Spahr Type AR 250400
Metatropic Dwarfism AD 156530
Microcephalic Osteodysplastic Primordial Dwarfism Type 2 AR 210720
Microcephaly 13, primary, autosomal recessive AR 616051
Microcephaly 20, primary, autosomal recessive AR 617914
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 AR 251270
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 AR 616171
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome AR 618142
Microcephaly, growth deficiency, seizures, and brain malformations AR 618346
Microcephaly, short stature, and polymicrogyria with seizures AR 614833
Microphthalmia Syndromic 6 AD 607932
Microphthalmia With Limb Anomalies AR 206920
Microphthalmia/Coloboma and Skeletal Dysplasia Syndrome AR 615877
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma AR 251750
Migraine AD 157300
Miller Syndrome AR 263750
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) AR 615471
Mitochondrial DNA depletion syndrome 18 AR 618811
Miyoshi Muscular Dystrophy 3 AR 613319
MORM Syndrome AR 610156
Morquio Syndrome A AR 253000
Moyamoya Disease 5 614042
Mucolipidosis III Gamma AR 252605
Mucopolysaccharidosis Type VI AR 253200
Mucopolysaccharidosis Type VII AR 253220
Mucopolysaccharidosis, MPS-I-H/S AR 607015
Mucopolysaccharidosis, MPS-I-S AR 607016
Mucopolysaccharidosis, MPS-II XL 309900
Mucopolysaccharidosis, MPS-III-A AR 252900
Mucopolysaccharidosis, MPS-III-B AR 252920
Mucopolysaccharidosis, MPS-III-C AR 252930
Mucopolysaccharidosis, MPS-III-D AR 252940
Mucopolysaccharidosis, MPS-IV-B AR 253010
Mucopolysaccharidosis-plus syndrome AR 617303
Muenke Syndrome AD 602849
Multicentric carpotarsal osteolysis syndrome AD 166300
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly AR 236500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome AR 614080
Multiple Epiphyseal Dysplasia 1 AD 132400
Multiple Epiphyseal Dysplasia 2 AD 600204
Multiple Epiphyseal Dysplasia 3 AD 600969
Multiple Epiphyseal Dysplasia 4 AR 226900
Multiple Epiphyseal Dysplasia 5 AD 607078
Multiple Epiphyseal Dysplasia 6 AD 614135
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects AR 245600
Multiple sclerosis, susceptibility to, 5 614810
Multiple Sulfatase Deficiency AR 272200
Multiple Synostoses Syndrome 1 AD 186500
Multiple Synostoses Syndrome 2 AD 610017
Multiple Synostoses Syndrome 3 AD 612961
Multiple synostoses syndrome 4 AD 617898
Multisystemic Smooth Muscle Dysfunction Syndrome AD 613834
Muscular dystrophy, congenital, Davignon-Chauveau type AR 617066
Muscular Dystrophy, Congenital, LMNA-Related AD 613205
Muscular Dystrophy, Limb-Girdle, Type 2L AR 611307
Myelodysplastic Syndrome 614286
Myhre Syndrome AD 139210
Myoclonic Dystonia AD 159900
Myopathy, distal, with rimmed vacuoles AD 617158
Nail-Patella Syndrome AD 161200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 AD 612286
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 AD 612287
Nephronophthisis 13 AR 614377
Nephronophthisis 15 AR 614845
Neu-Laxova syndrome 1 AR 256520
Neural Tube Defects AD 182940
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset AR 617145
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities AD 618505
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features AD 617865
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies AD 618577
Neurodevelopmental disorder, X-linked, with craniofacial abnormalities XL 301022
Neurodevelopmental, jaw, eye, and digital syndrome AD 618914
Neurofibromatosis, Type 1 AD 162200
Neurofibromatosis-Noonan Syndrome AD 601321
Neurooculocardiogenitourinary syndrome AD 618652
Neuropathy, Hereditary, with or without Age-Related Macular Degeneration AD 608895
Neutropenia, severe congenital, 8, autosomal dominant AD 618752
Noonan Syndrome 1 AD 163950
Obesity AR 601665
Occipital Horn Syndrome XL 304150
Oculodentodigital Dysplasia AD 164200
Oculodentodigital Dysplasia, Autosomal Recessive AR 257850
Oculofaciocardiodental Syndrome XL 300166
Oculomaxillofacial Dysostosis AD 600251
Ogden Syndrome XL 300855
OHDO Syndrome, X-linked; OHDOX XL 300895
Olmsted syndrome, X-linked XL 300918
Omodysplasia 1 AR 258315
Omodysplasia 2 AD 164745
Opitz GBBB syndrome, type II AD 145410
Opsismodysplasia AR 258480
Oral-Facial-Digital Syndrome XL 311200
Orofacial Cleft 11 600625
Orofacial Cleft 5 AD 608874
Orofacial Cleft 6, Susceptibility To AD 608864
Orofaciodigital Syndrome IV AR 258860
Orofaciodigital Syndrome V AR 174300
Orofaciodigital syndrome VI AR 277170
Orofaciodigital syndrome XV AR 617127
Orofaciodigital Syndrome XVI AR 617563
Orofaciodigital syndrome XVII AR 617926
Osteitis Deformans AD 602080
Osteoarthritis Of Distal Interphalangeal Joint AD 140600
Osteoarthritis Of Hip 612400
Osteoarthritis With Mild Chondrodysplasia AD 604864
Osteochondritis Dissecans AD 165800
Osteochondrodysplasia AR 184260
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits AR 618167
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type AR 616897
Osteodysplastic Primordial Dwarfism, Type 1 AR 210710
Osteogenesis Imperfecta Type III 259420
Osteogenesis Imperfecta, Type I AD 166200
Osteogenesis Imperfecta, Type II AD 166210
Osteogenesis Imperfecta, Type IV 166220
Osteogenesis Imperfecta, Type IX AR 259440
Osteogenesis imperfecta, type V AD 610967
Osteogenesis Imperfecta, Type VI AR 613982
Osteogenesis Imperfecta, Type VII AR 610682
Osteogenesis Imperfecta, Type VIII AR 610915
Osteogenesis Imperfecta, Type X AR 613848
Osteogenesis Imperfecta, Type XI AR 610968
Osteogenesis Imperfecta, Type XII AR 613849
Osteogenesis Imperfecta, Type XIII AR 614856
Osteogenesis Imperfecta, Type XIV 615066
Osteogenesis imperfecta, type XIX XL 301014
Osteogenesis Imperfecta, Type XV AR 615220
Osteogenesis imperfecta, type XVI AR 616229
Osteogenesis Imperfecta, Type XVII AR 616507
Osteogenesis imperfecta, type XVIII AR 617952
Osteogenesis imperfecta, type XX AR 618644
Osteoglophonic Dysplasia AD 166250
Osteopathia Striata With Cranial Sclerosis XL 300373
Osteopetrosis Autosomal Dominant Type 1 AD 607634
Osteopetrosis Autosomal Dominant Type 2 AD 166600
Osteopetrosis Autosomal Recessive 1 AR 259700
Osteopetrosis Autosomal Recessive 2 AR 259710
Osteopetrosis Autosomal Recessive 4 AR 611490
Osteopetrosis Autosomal Recessive 5 AR 259720
Osteopetrosis Autosomal Recessive 7 AR 612301
Osteopetrosis With Renal Tubular Acidosis AR 259730
Osteopetrosis, Autosomal Recessive 8 AR 615085
Osteoporosis AD 166710
Osteoporosis With Pseudoglioma AR 259770
Osteoporosis, early-onset, susceptibility to, autosomal dominant 615221
Oto-Palato-Digital Syndrome Type 1 XL 311300
Oto-Palato-Digital Syndrome, Type II XL 304120
Otofaciocervical Syndrome AD 166780
Otospondylomegaepiphyseal Dysplasia AR 215150
Pachydermoperiostosis AR 259100
Paget Disease of Bone 3 AD 167250
Pallister-Hall Syndrome AD 146510
Parastremmatic Dwarfism AD 168400
Parathyroid Carcinoma 608266
Parietal Foramina AD 168500
Parietal Foramina 2 AD 609597
Parietal Foramina With Cleidocranial Dysplasia AD 168550
Patent ductus arteriosus 2 AD 617035
Pelger-Huet Anomaly AD 169400
Pelger-Huet anomaly with mild skeletal anomalies AR 618019
Periventricular Nodular Heterotopia 7 AD 617201
Peroxisomal fatty acyl-CoA reductase 1 disorder AR 616154
Pfeiffer Syndrome 101600
Phosphoglycerate Dehydrogenase Deficiency AR 601815
Pitt-Hopkins-like syndrome 2 AR 614325
Pituitary Hormone Deficiency, Combined 4 AD 262700
Platyspondylic Lethal Skeletal Dysplasia Torrance Type AD 151210
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy AR 221770
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 AR 618193
Polycystic Liver Disease 4 with or without Kidney Cysts AD 617875
Polydactyly Preaxial Type 4 AD 174700
Polydactyly, Postaxial, Type A1 AD 174200
Polydactyly, postaxial, type A10 AR 618498
Polydactyly, postaxial, type A6 AR 615226
Polydactyly, postaxial, type A7 AR 617642
Polydactyly, postaxial, type A8 AR 618123
Polydactyly, postaxial, type A9 AR 618219
Polydactyly, preaxial I AR 174400
Polydactyly, Preaxial II AD 174500
Polymicrogyria with or without vascular-type EDS AD 618343
Polyostotic Osteolytic Dysplasia, Hereditary Expansile AD 174810
Popliteal Pterygium Syndrome AD 119500
Popliteal pterygium syndrome 2, lethal type AR 263650
Preaxial Deficiency, Postaxial Polydactyly And Hypospadias AD 176305
Premature ovarian failure 15 AR 618096
Primary Autosomal Recessive Microcephaly 1 AR 251200
Primary Autosomal Recessive Microcephaly 3 AR 604804
Primary Autosomal Recessive Microcephaly 5 AR 608716
Primary Autosomal Recessive Microcephaly 6 AR 608393
Primary Autosomal Recessive Microcephaly 9 AR 614852
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 AD 615156
Progressive Osseous Heteroplasia AD 166350
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis XL 308990
Proteus Syndrome 176920
Pseudo-Hurler Polydystrophy AR 252600
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome AD 177170
Pseudohypoparathyroidism Type 1A AD 103580
Pseudohypoparathyroidism Type 1B AD 603233
Pseudohypoparathyroidism Type 1C AD 612462
Pseudopseudohypoparathyroidism AD 612463
Pyknodysostosis AR 265800
Pyle disease AR 265900
Question mark ears, isolated AD 612798
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia AD 605432
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 AD 616738
Raine Syndrome AR 259775
Rapadilino Syndrome AR 266280
Rapp-Hodgkin Ectodermal Dysplasia Syndrome AD 129400
Renal Dysplasia And Retinal Aplasia AR 266900
Retinal Dystrophy with Macular Staphyloma AR 617547
Retinitis Pigmentosa 71 AR 616394
Retinitis Pigmentosa 73 AR 616544
Retinitis pigmentosa 80 AR 617781
Rhizomelic Chondrodysplasia Punctata Type 1 AR 215100
Rhizomelic Chondrodysplasia Punctata Type 2 AR 222765
Rhizomelic Chondrodysplasia Punctata, Type 3 AR 600121
Rhizomelic chondrodysplasia punctata, type 5 AR 616716
RHYNS syndrome AR 602152
Ritscher-Schinzel syndrome 1 AR 220210
Roberts Syndrome AR 268300
Roberts-SC Phocomelia Syndrome AR 269000
Robinow Syndrome AD 180700
Robinow syndrome, autosomal dominant 2 AD 616331
Robinow syndrome, autosomal dominant 3 AD 616894
Robinow Syndrome, Autosomal Recessive AR 268310
Robinow syndrome, autosomal recessive 2 AR 618529
Robinow-Sorauf Syndrome AD 180750
Roifman syndrome AR 616651
Rothmund-Thomson Syndrome AR 268400
Rubinstein-Taybi Syndrome AD 180849
Rubinstein-Taybi Syndrome 2 AD 613684
SADDAN AD 616482
Saethre-Chotzen Syndrome AD 101400
Saul-Wilson syndrome AD 618150
Scalp-ear-nipple syndrome AD 181270
Scaphocephaly, Maxillary Retrusion, And Mental Retardation 609579
Scapuloperoneal Spinal Muscular Atrophy AD 181405
Schimke Immunoosseous Dysplasia AR 242900
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200
Schneckenbecken Dysplasia AR 269250
Schuurs-Hoeijmakers Syndrome AD 615009
Schwartz Jampel Syndrome Type 1 AR 255800
Sclerosteosis AR 269500
Sclerosteosis 2 AR 614305
Seckel Syndrome AR 210600
Seckel syndrome 10 AR 617253
Seckel Syndrome 2 AR 606744
Seckel Syndrome 4 AR 613676
Seckel Syndrome 5 AR 613823
Seckel syndrome 7 AR 614851
Seckel syndrome 8 AR 615807
Seckel Syndrome 9 AR 616777
Seizures, scoliosis, and macrocephaly syndrome AR 616682
Senior-Loken Syndrome 6 AR 610189
Senior-Loken Syndrome 7 613615
Senior-Loken Syndrome 8 AR 616307
Senior-Loken syndrome 9 AR 616629
Short stature with microcephaly and distinctive facies AR 615789
Short stature with nonspecific skeletal abnormalities AD 616255
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis AR 618363
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities AR 602471
Short stature, developmental delay, and congenital heart defects AR 617044
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies AD 617877
Short Stature, Mcrocephaly, and Endocrine Dysfunction AR 616541
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis AR 614813
Short stature, Optic nerve atrophy, and Pelger-Huet anomaly AR 614800
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay AD 617164
Short-Rib Thoracic Dysplasia 10 with or without Polydactyly AR 615630
Short-Rib Thoracic Dysplasia 11 with or without Polydactyly AR 615633
Short-Rib Thoracic Dysplasia 13 with or without Polydactyly AR 616300
Short-rib thoracic dysplasia 14 with polydactyly AR 616546
Short-rib thoracic dysplasia 15 with polydactyly AR 617088
Short-rib thoracic dysplasia 16 with or without polydactyly AR 617102
Short-rib thoracic dysplasia 17 with or without polydactyly AR 617405
Short-rib thoracic dysplasia 18 with polydactyly AR 617866
Short-rib thoracic dysplasia 19 with or without polydactyly AR 617895
Short-Rib Thoracic Dysplasia 2 with or without Polydactyly AR 611263
Short-rib thoracic dysplasia 20 with polydactyly AR 617925
Short-Rib Thoracic Dysplasia 3 with or without Polydactyly AR 613091
Short-Rib Thoracic Dysplasia 4 with or without Polydactyly AR 613819
Short-Rib Thoracic Dysplasia 5 with or without Polydactyly AR 614376
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly AR 263520
Short-Rib Thoracic Dysplasia 7 with or without Polydactyly AR 614091
Short-Rib Thoracic Dysplasia 8 with or without Polydactyly AR 615503
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly AR 266920
Shprintzen-Goldberg Syndrome AD 182212
Shwachman Syndrome AR 260400
Shwachman-Diamond syndrome 2 AR 617941
Sialic Acid Storage Disease, Severe Infantile Type AR 269920
Sialidosis, Type II AR 256550
Simpson-Golabi-Behmel Syndrome XL 312870
Simpson-Golabi-Behmel Syndrome, Type 2 XL 300209
Singleton-Merten Syndrome 1 AD 182250
Singleton-Merten syndrome 2 AD 616298
Skeletal dysplasia, mild, with joint laxity and advanced bone age AR 618870
Small patella syndrome AD 147891
Smith McCort Dysplasia AR 607326
Smith-Lemli-Opitz Syndrome AR 270400
Smith-McCort Dysplasia 2 AR 615222
Snyder Robinson Syndrome XL 309583
Sodium Serum Level Quantitative Trait Locus 1 613508
Sotos Syndrome 2 AD 614753
Sotos syndrome 3 AR 617169
Sotos' Syndrome AD 117550
Spermatogenic failure 28 AR 618086
Spinal muscular atrophy with congenital bone fractures 1 AR 616866
Spinal muscular atrophy with congenital bone fractures 2 AR 616867
Split-foot malformation with mesoaxial polydactyly AR 616890
Split-hand/foot malformation 1 AD 183600
Split-hand/foot malformation 1 with sensorineural hearing loss AR 220600
Split-Hand/Foot Malformation 4 AD 605289
Split-Hand/Foot Malformation 6 AR 225300
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia AR 613330
Spondylocarpotarsal Synostosis Syndrome AR 272460
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like AR 612350
Spondylocostal Dysostosis 1 AR 277300
Spondylocostal Dysostosis 2 AR 608681
Spondylocostal Dysostosis 3 AR 609813
Spondylocostal Dysostosis 4 AR 613686
Spondylocostal Dysostosis 5 AR 122600
Spondylocostal dysostosis 6 AR 616566
Spondyloenchondrodysplasia With Immune Dysregulation AR 607944
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related AR 608728
Spondyloepimetaphyseal Dysplasia Strudwick Type AD 184250
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures AR 271640
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 AD 603546
Spondyloepimetaphyseal dysplasia with joint laxity, type 3 AR 618395
Spondyloepimetaphyseal Dysplasia, Aggrecan Type AR 612813
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type AR 610442
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type AR 616723
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type AD 618728
Spondyloepimetaphyseal Dysplasia, Missouri Type AD 602111
Spondyloepimetaphyseal dysplasia, Shohat type AR 602557
Spondyloepimetaphyseal dysplasia, sponastrime type AR 271510
Spondyloepimetaphyseal dysplasia, X-linked XL 300106
Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy XL 300232
Spondyloepiphyseal Dysplasia Congenita AD 183900
Spondyloepiphyseal Dysplasia Maroteaux Type AD 184095
Spondyloepiphyseal Dysplasia Tarda XL 313400
Spondyloepiphyseal Dysplasia Tarda Progressive Arthropathy AR 208230
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations AR 143095
Spondyloepiphyseal Dysplasia, Kimberley Type AD 608361
Spondyloepiphyseal Sysplasia, Stanescu Type AD 616583
Spondylometaepiphyseal Dysplasia Short Limb-Hand Type AR 271665
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy AR 608940
Spondylometaphyseal dysplasia, axial AR 602271
Spondylometaphyseal dysplasia, corner fracture type AD 184255
Spondylometaphyseal Dysplasia, Kozlowski Type AD 184252
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type AR 613320
Spondylometaphyseal dysplasia, Sedaghatian type AR 250220
Spondyloocular syndrome AR 605822
Spondyloperipheral Dysplasia AD 271700
Squalene synthase deficiency AR 618156
Stapes Ankylosis With Broad Thumb And Toes AD 184460
STAR Syndrome XL 300707
Steel Syndrome AR 615155
Stickler Syndrome Type 1 AD 108300
Stickler Syndrome, Type 2 AD 604841
Stickler Syndrome, Type 3 AD 184840
Stickler Syndrome, Type 4 614134
Stickler Syndrome, Type 5 AR 614284
Stickler Syndrome, Type I, Nonsyndromic Ocular AD 609508
Structural brain anomalies with impaired intellectual development and craniosynostosis AD 618736
Stuve-Wiedemann Syndrome AR 601559
Supravalvar Aortic Stenosis AD 185500
Sweeney-Cox syndrome AD 617746
Symphalangism, Proximal, 1B AD 615298
Syndactyly Cenani Lenz Type AR 212780
Syndactyly Type 3 AD 186100
Syndactyly Type 5 AD 186300
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction AR 609432
Syndactyly, Type IV AD 186200
Synpolydactyly 1 AD 186000
Synpolydactyly 2 AD 608180
Talipes Equinovarus AD 119800
Tarsal Carpal Coalition Syndrome AD 186570
Tatton-Brown-Rahman Syndrome AD 615879
Temtamy Preaxial Brachydactyly Syndrome AR 605282
Terminal Osseous Dysplasia XL 300244
Tetraamelia, Autosomal Recessive AR 273395
Thanatophoric Dysplasia Type 1 AD 187600
Thanatophoric Dysplasia Type 2 AD 187601
Three M Syndrome 1 AR 273750
Three M Syndrome 2 AR 612921
Thrombocytopenia-Absent Radius Syndrome AR 274000
Timothy Syndrome AD 601005
Tooth Agenesis, Selective, 1 AD 106600
Torg Winchester Syndrome AR 259600
Townes-Brocks Syndrome AD 107480
Treacher Collins Syndrome AD 154500
Treacher Collins Syndrome 2 AR 613717
Treacher Collins syndrome 3 AR 248390
Tricho-Dento-Osseous Syndrome AD 190320
Trichorhinophalangeal Dysplasia Type I AD 190350
Trichorhinophalangeal Syndrome Type 3 AD 190351
Trigonocephaly 2 AD 614485
Trigonocephaly, Nonsyndromic AD 190440
Tumoral Calcinosis, Hyperphosphatemic, Familial AR 211900
Tumoral calcinosis, hyperphosphatemic, familial, 2 AR 617993
Tumoral calcinosis, hyperphosphatemic, familial, 3 AR 617994
Turnpenny-Fry syndrome AD 618371
Ullrich Congenital Muscular Dystrophy 2 AR 616470
Ulna And Fibula Absence Of With Severe Limb Deficiency AR 276820
Ulnar-Mammary Syndrome AD 181450
Van Buchem Disease Type 2 AD 607636
Van Der Woude Syndrome AD 119300
Van Der Woude Syndrome 2 AD 606713
Velocardiofacial Syndrome AD 192430
Vertebral, cardiac, renal, and limb defects syndrome 1 AR 617660
Vertebral, cardiac, renal, and limb defects syndrome 2 AR 617661
Vesicoureteral Reflux 8 AD 615963
Vitamin D Hydroxylation-Deficient Rickets, Type 1B AR 600081
Vitamin D-Dependent Rickets, Type 1 AR 264700
Vitamin D-Dependent Rickets, Type 2 AR 277440
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 AR 277450
Warburg-Cinotti syndrome AD 618175
Weaver Syndrome AD 277590
Weill-Marchesani Syndrome 1 AR 277600
Weill-Marchesani Syndrome 2 AD 608328
Weill-Marchesani Syndrome 3 AR 614819
Weill-Marchesani-Like Syndrome AR 613195
Weyers Acrofacial Dysostosis 193530
Wiedemann-Steiner Syndrome AD 605130
Winchester syndrome AR 277950
Wolcott-Rallison Dysplasia AR 226980
Worth Disease AD 144750
X-Linked Periventricular Heterotopia XL 300049
X-Linked Recessive Nephrolithiasis With Renal Failure XL 310468
Xeroderma Pigmentosum, Complementation Group F AR 278760
XFE Progeroid Syndrome AR 610965
Young Simpson Syndrome AD 603736
Yunis-Varon Syndrome AR 216340
Zimmermann-Laband syndrome 3 AD 618658

Related Test

Name
PGxome®

Citations

  • Bowman et al. 2012. PubMed ID: 22317976
  • Boyle et al. 2015. PubMed ID: 25209348
  • Human Gene Mutation Database (Bio-base).
  • Katsanis and Jabs. 2012. PubMed ID: 20301704
  • Malfait et al. 2018. PubMed ID: 20301422
  • Mortier et al. 2019. PubMed ID: 31633310
  • Paumard-Hern├índez et al. 2015. PubMed ID: 25271085
  • Pepin et al. 2014. PubMed ID: 24922459
  • Robin et al. 2014. PubMed ID: 20301479
  • Sharma et al. 2013. PubMed ID: 23354436
  • Simonis et al. 2013. PubMed ID: 23812909
  • Stef et al. 2007. PubMed ID: 17473832
  • Stevens and Stevens. 2014. PubMed ID: 20301699

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