CENTOGENE GmbH and LLC - Guiding Precision Medicine
General information
CENTOGENE GmbH and LLC - Guiding Precision Medicine
Am Strande 7
CENTOGENE
Rostock
Mecklenburg-Vorpommern
Germany - 18055
https://www.centogene.com/company/contact.html
Organization ID: 279559
Am Strande 7
CENTOGENE
Rostock
Mecklenburg-Vorpommern
Germany - 18055
https://www.centogene.com/company/contact.html
Organization ID: 279559
Personnel
- Ellen Karges
Phone: (49)0381203652218
Email: ellen.karges@centogene.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1216
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AARS1 | 1 | Dec 21, 2021 |
| AARS2 | 1 | Dec 21, 2021 |
| ABCA1 | 1 | Nov 29, 2021 |
| ABCA4 | 4 | Dec 21, 2021 |
| ABCA7 | 3 | Dec 21, 2021 |
| ABCB11 | 6 | Aug 5, 2020 |
| ABCB4 | 3 | Dec 21, 2021 |
| ABCB7 | 1 | Dec 21, 2021 |
| ABCC6 | 2 | Dec 21, 2021 |
| ABCC8 | 1 | Jul 14, 2020 |
| ABCC9 | 1 | Jul 14, 2020 |
| ABCD1 | 1 | Dec 21, 2021 |
| ABCD4 | 1 | Dec 21, 2021 |
| ABHD5 | 1 | Jul 14, 2020 |
| ACADVL | 1 | Aug 5, 2020 |
| ACTA1 | 1 | Dec 21, 2021 |
| ACTA2 | 1 | Aug 5, 2020 |
| ACTB | 3 | Dec 21, 2021 |
| ACTG1 | 3 | Dec 21, 2021 |
| ACTG2 | 1 | Dec 21, 2021 |
| ADA2 | 2 | Dec 21, 2021 |
| ADAT3 | 3 | Dec 21, 2021 |
| ADCY5 | 1 | Dec 21, 2021 |
| ADD3 | 1 | Dec 21, 2021 |
| ADGRV1 | 2 | Dec 21, 2021 |
| AFG3L2 | 4 | Dec 21, 2021 |
| AGL | 6 | Jul 14, 2020 |
| AGPS | 1 | Dec 21, 2021 |
| AGXT | 1 | Jul 14, 2020 |
| AHDC1 | 2 | Nov 4, 2022 |
| ALAS2 | 1 | Dec 21, 2021 |
| ALDH18A1 | 1 | Dec 21, 2021 |
| ALDOB | 2 | Aug 5, 2020 |
| ALPL | 1 | Jul 14, 2020 |
| ALS2 | 1 | Jul 14, 2020 |
| AMT | 1 | Dec 21, 2021 |
| ANK1 | 1 | Jul 14, 2020 |
| ANK2 | 1 | Dec 21, 2021 |
| ANKH | 1 | Aug 5, 2020 |
| ANKRD11 | 5 | Nov 4, 2022 |
| ANO3 | 1 | Dec 21, 2021 |
| ANTXR2 | 1 | Aug 5, 2020 |
| AP5Z1 | 1 | Aug 5, 2020 |
| APC | 1 | Aug 5, 2020 |
| APOC2 | 1 | Dec 21, 2021 |
| APOC4-APOC2 | 1 | Dec 21, 2021 |
| APOE | 2 | Nov 4, 2022 |
| APP | 1 | Dec 21, 2021 |
| APP-DT | 1 | Dec 21, 2021 |
| ARFGEF1-DT | 1 | Dec 21, 2021 |
| ARG1 | 2 | Dec 21, 2021 |
| ARHGEF9 | 1 | Aug 5, 2020 |
| ARID1B | 4 | Nov 4, 2022 |
| ARID2 | 1 | Dec 21, 2021 |
| ARSA | 1 | Aug 5, 2020 |
| ARSB | 1 | Aug 5, 2020 |
| ARSL | 1 | Aug 5, 2020 |
| ARX | 3 | Dec 21, 2021 |
| ASCC1 | 2 | Dec 21, 2021 |
| ASL | 1 | Jul 14, 2020 |
| ASPA | 2 | Jul 14, 2020 |
| ASPH | 2 | Dec 21, 2021 |
| ASS1 | 1 | Aug 5, 2020 |
| ASXL3 | 2 | Dec 21, 2021 |
| ATAD3A | 1 | Dec 21, 2021 |
| ATL1 | 2 | Dec 21, 2021 |
| ATM | 5 | Dec 21, 2021 |
| ATP13A2 | 1 | Dec 21, 2021 |
| ATP1A2 | 1 | Dec 21, 2021 |
| ATP1A3 | 4 | Dec 21, 2021 |
| ATP2B3 | 2 | Dec 21, 2021 |
| ATP5F1A | 1 | Dec 21, 2021 |
| ATP6V0A4 | 2 | Jul 14, 2020 |
| ATP7A | 1 | Dec 21, 2021 |
| ATP7B | 6 | Dec 21, 2021 |
| ATP8B1 | 2 | Jul 14, 2020 |
| ATRIP | 2 | Dec 21, 2021 |
| ATRIP-TREX1 | 2 | Dec 21, 2021 |
| ATRX | 2 | Dec 21, 2021 |
| ATXN7L3-AS1 | 1 | Dec 21, 2021 |
| BCL11B | 1 | Dec 21, 2021 |
| BCOR | 2 | Dec 21, 2021 |
| BCORL1 | 2 | Nov 4, 2022 |
| BLK | 1 | Dec 21, 2021 |
| BLK-AS1 | 1 | Dec 21, 2021 |
| BLM | 1 | Aug 5, 2020 |
| BMPR1A | 1 | Jul 14, 2020 |
| BPTF | 1 | Dec 21, 2021 |
| BRAT1 | 2 | Nov 4, 2022 |
| BRCA1 | 1 | Jul 14, 2020 |
| BRCA2 | 1 | Dec 21, 2021 |
| BRPF1 | 1 | Dec 21, 2021 |
| BRWD3 | 1 | Dec 21, 2021 |
| BTD | 4 | Dec 21, 2021 |
| BTK | 2 | Jul 14, 2020 |
| C11orf65 | 1 | Aug 5, 2020 |
| C1QA | 1 | Aug 5, 2020 |
| C1R | 1 | Jul 14, 2020 |
| C6 | 1 | Aug 5, 2020 |
| CA5A | 1 | Jul 14, 2020 |
| CACNA1A | 5 | Dec 21, 2021 |
| CACNA1C | 2 | Dec 21, 2021 |
| CACNA1C-AS1 | 1 | Dec 21, 2021 |
| CACNA1D | 2 | Dec 21, 2021 |
| CACNA1F | 1 | Dec 21, 2021 |
| CACNA1G | 2 | Dec 21, 2021 |
| CACNA1H | 2 | Dec 21, 2021 |
| CACNA1S | 2 | Dec 21, 2021 |
| CAMK2B | 1 | Dec 21, 2021 |
| CAMTA1 | 1 | Dec 21, 2021 |
| CANT1 | 1 | Aug 5, 2020 |
| CAPN1 | 1 | Aug 5, 2020 |
| CASD1 | 1 | Dec 21, 2021 |
| CASK | 3 | Dec 21, 2021 |
| CBS | 1 | Jul 14, 2020 |
| CC2D1A | 2 | Dec 21, 2021 |
| CCDC88C | 1 | Dec 21, 2021 |
| CCDST | 2 | Nov 29, 2021 |
| CCM2 | 1 | Aug 5, 2020 |
| CCNH | 2 | Dec 21, 2021 |
| CD46 | 1 | Dec 21, 2021 |
| CDAN1 | 2 | Dec 21, 2021 |
| CDC42 | 1 | Jul 14, 2020 |
| CDC45 | 1 | Dec 21, 2021 |
| CDK13 | 2 | Dec 21, 2021 |
| CEP290 | 1 | Dec 21, 2021 |
| CFHR5 | 1 | Dec 21, 2021 |
| CFTR | 5 | Sep 4, 2024 |
| CFTR-AS1 | 2 | Dec 21, 2021 |
| CFTR-AS2 | 1 | Jul 14, 2020 |
| CHD3 | 1 | Dec 21, 2021 |
| CHD4 | 1 | Dec 21, 2021 |
| CHD4-AS1 | 1 | Dec 21, 2021 |
| CHD7 | 1 | Dec 21, 2021 |
| CHD8 | 7 | Dec 21, 2021 |
| CHEK2 | 1 | Aug 5, 2020 |
| CHMP2B | 2 | Dec 21, 2021 |
| CHRNA4 | 1 | Dec 21, 2021 |
| CHRNB1 | 1 | Dec 21, 2021 |
| CHRNB2 | 1 | Dec 21, 2021 |
| CHRNE | 1 | Jul 14, 2020 |
| CHRNG | 1 | Nov 29, 2021 |
| CIC | 2 | Dec 21, 2021 |
| CLDN10 | 1 | Aug 5, 2020 |
| CLDN16 | 1 | Aug 5, 2020 |
| CLN6 | 1 | Jul 14, 2020 |
| CLTC | 3 | Dec 21, 2021 |
| CNGA3 | 1 | Jul 14, 2020 |
| CNGB3 | 1 | Aug 5, 2020 |
| CNTN2 | 2 | Dec 21, 2021 |
| CNTNAP2 | 2 | Aug 5, 2020 |
| COG6 | 1 | Aug 5, 2020 |
| COL10A1 | 1 | Dec 21, 2021 |
| COL11A2 | 1 | Dec 21, 2021 |
| COL12A1 | 4 | Dec 21, 2021 |
| COL17A1 | 1 | Jul 14, 2020 |
| COL18A1 | 1 | Aug 5, 2020 |
| COL1A1 | 3 | Dec 21, 2021 |
| COL1A2 | 1 | Dec 21, 2021 |
| COL2A1 | 2 | Dec 21, 2021 |
| COL4A1 | 4 | Nov 4, 2022 |
| COL4A2 | 1 | Dec 21, 2021 |
| COL4A3 | 12 | Feb 22, 2022 |
| COL4A4 | 8 | Feb 22, 2022 |
| COL4A5 | 11 | Feb 22, 2022 |
| COL5A1 | 4 | Dec 21, 2021 |
| COL6A1 | 1 | Dec 21, 2021 |
| COL6A2 | 3 | Dec 19, 2022 |
| COL7A1 | 1 | Aug 5, 2020 |
| COLQ | 1 | Dec 21, 2021 |
| COMP | 2 | Dec 21, 2021 |
| COQ4 | 3 | Dec 21, 2021 |
| COQ8A | 1 | Dec 21, 2021 |
| COQ8B | 1 | Nov 4, 2022 |
| CPA6 | 1 | Dec 21, 2021 |
| CPOX | 1 | Dec 21, 2021 |
| CPT1C | 1 | Dec 21, 2021 |
| CPT2 | 1 | Dec 21, 2021 |
| CTC1 | 2 | Dec 21, 2021 |
| CTCF | 1 | Dec 21, 2021 |
| CTNNA3 | 1 | Dec 21, 2021 |
| CTNNB1 | 1 | Dec 21, 2021 |
| CTNS | 1 | Jul 14, 2020 |
| CUL3 | 1 | Aug 5, 2020 |
| CUX1 | 1 | Dec 21, 2021 |
| CYP1B1 | 1 | Aug 5, 2020 |
| CYP21A2 | 1 | Jul 14, 2020 |
| CYP24A1 | 1 | Dec 21, 2021 |
| CYP27A1 | 1 | Jul 14, 2020 |
| CYP2U1 | 1 | Aug 5, 2020 |
| CYP2U1-AS1 | 1 | Aug 5, 2020 |
| DBT | 1 | Jul 14, 2020 |
| DCDC2 | 1 | Jul 14, 2020 |
| DCHS1 | 1 | Dec 21, 2021 |
| DDC | 1 | Jul 14, 2020 |
| DEAF1 | 2 | Dec 21, 2021 |
| DEPDC5 | 2 | Dec 21, 2021 |
| DISP1 | 2 | Dec 21, 2021 |
| DLD | 1 | Jul 14, 2020 |
| DLL4 | 1 | Aug 5, 2020 |
| DMD | 2 | Aug 5, 2020 |
| DNA2 | 2 | Dec 21, 2021 |
| DNAH11 | 1 | Aug 5, 2020 |
| DNAJB6 | 1 | Dec 21, 2021 |
| DNM1 | 1 | Dec 21, 2021 |
| DNM2 | 1 | Aug 5, 2020 |
| DNMT1 | 1 | Dec 21, 2021 |
| DNMT3A | 1 | Aug 5, 2020 |
| DPYD | 2 | Nov 29, 2021 |
| DSG2 | 1 | Jul 14, 2020 |
| DSP | 1 | Dec 21, 2021 |
| DST | 2 | Dec 21, 2021 |
| DUOX2 | 1 | Nov 29, 2021 |
| DUOXA2 | 1 | Aug 5, 2020 |
| DVL3 | 1 | Dec 21, 2021 |
| DYRK1A | 2 | Nov 4, 2022 |
| DYSF | 1 | Aug 5, 2020 |
| ECEL1 | 2 | Dec 21, 2021 |
| EEF2 | 1 | Dec 21, 2021 |
| EHMT1 | 1 | Aug 5, 2020 |
| ELOVL4 | 1 | Sep 4, 2024 |
| EMD | 1 | Aug 5, 2020 |
| ENO3 | 2 | Dec 21, 2021 |
| ENPP1 | 1 | Dec 21, 2021 |
| EP300 | 6 | Nov 4, 2022 |
| EPCAM | 2 | Jul 14, 2020 |
| ERBB4 | 2 | Dec 21, 2021 |
| ERCC6 | 1 | Aug 5, 2020 |
| ERMARD | 1 | Dec 21, 2021 |
| ETFDH | 1 | Jul 14, 2020 |
| ETHE1 | 2 | Aug 5, 2020 |
| EVC2 | 1 | Dec 21, 2021 |
| EXT2 | 2 | Dec 21, 2021 |
| FA2H | 1 | Jul 14, 2020 |
| FAH | 3 | Jul 14, 2020 |
| FANCA | 1 | Dec 21, 2021 |
| FANCF | 1 | Dec 21, 2021 |
| FAT2 | 1 | Dec 21, 2021 |
| FBN1 | 2 | Dec 21, 2021 |
| FBP1 | 3 | Jul 14, 2020 |
| FBXO11 | 2 | Dec 21, 2021 |
| FBXO7 | 1 | Dec 21, 2021 |
| FCSK | 1 | Dec 21, 2021 |
| FGD1 | 1 | Dec 21, 2021 |
| FGFR1 | 4 | Dec 21, 2021 |
| FGFR3 | 3 | Dec 21, 2021 |
| FIG4 | 1 | Dec 21, 2021 |
| FLG | 2 | Nov 29, 2021 |
| FLNA | 1 | Dec 21, 2021 |
| FLNC | 2 | Dec 21, 2021 |
| FLNC-AS1 | 1 | Dec 21, 2021 |
| FN1 | 2 | Dec 21, 2021 |
| FOXG1 | 1 | Aug 5, 2020 |
| FOXP1 | 3 | Dec 21, 2021 |
| FOXP2 | 1 | Dec 21, 2021 |
| FRMPD4 | 1 | Dec 21, 2021 |
| FRRS1L | 1 | Aug 5, 2020 |
| FTSJ1 | 1 | Dec 21, 2021 |
| FUCA1 | 1 | Jul 14, 2020 |
| G6PC1 | 2 | Jul 14, 2020 |
| G6PD | 6 | Dec 21, 2021 |
| GAA | 3 | Dec 21, 2021 |
| GABBR2 | 1 | Aug 5, 2020 |
| GABRA1 | 3 | Dec 21, 2021 |
| GALC | 1 | Aug 5, 2020 |
| GALNS | 6 | Dec 21, 2021 |
| GALT | 2 | Jul 14, 2020 |
| GATAD1 | 1 | Jul 14, 2020 |
| GATAD2B | 1 | Dec 21, 2021 |
| GBA1 | 8 | Dec 21, 2021 |
| GCDH | 1 | Dec 21, 2021 |
| GCH1 | 2 | Dec 21, 2021 |
| GCK | 1 | Dec 21, 2021 |
| GDAP2 | 1 | Dec 21, 2021 |
| GDF5 | 1 | Dec 21, 2021 |
| GDF5-AS1 | 1 | Dec 21, 2021 |
| GJB2 | 1 | Dec 21, 2021 |
| GLA | 4 | Dec 21, 2021 |
| GLB1 | 3 | Jul 14, 2020 |
| GLDN | 1 | Aug 5, 2020 |
| GMNN | 1 | Dec 21, 2021 |
| GNAO1 | 1 | Dec 21, 2021 |
| GNB5 | 1 | Jul 14, 2020 |
| GNE | 1 | Dec 21, 2021 |
| GNPTAB | 2 | Aug 5, 2020 |
| GREB1L | 1 | Dec 21, 2021 |
| GRIN1 | 1 | Dec 21, 2021 |
| GRIN2A | 2 | Dec 21, 2021 |
| GRIN2B | 2 | Dec 21, 2021 |
| GRIN2D | 3 | Dec 21, 2021 |
| GTPBP2 | 2 | Aug 5, 2020 |
| GUCY2D | 1 | Dec 21, 2021 |
| HARS1 | 1 | Dec 21, 2021 |
| HBA1 | 1 | Dec 21, 2021 |
| HBB | 6 | Nov 29, 2021 |
| HDAC8 | 2 | Dec 21, 2021 |
| HDC | 1 | Dec 21, 2021 |
| HERC2 | 2 | Dec 21, 2021 |
| HEXA | 3 | Jul 14, 2020 |
| HEXB | 3 | Aug 5, 2020 |
| HFE | 2 | Nov 29, 2021 |
| HFE-AS1 | 1 | Nov 29, 2021 |
| HIBCH | 1 | Dec 21, 2021 |
| HIVEP2 | 2 | Dec 21, 2021 |
| HMBS | 3 | Dec 21, 2021 |
| HNF4A | 1 | Dec 21, 2021 |
| HNRNPH2 | 1 | Dec 21, 2021 |
| HNRNPU | 1 | Dec 21, 2021 |
| HRAS | 1 | Dec 21, 2021 |
| HS6ST2 | 1 | Dec 21, 2021 |
| HUWE1 | 3 | Dec 21, 2021 |
| HYLS1 | 1 | Aug 5, 2020 |
| IDUA | 1 | Jul 14, 2020 |
| IFT140 | 2 | Aug 5, 2020 |
| IFT57 | 1 | Aug 5, 2020 |
| IGH | 1 | Jul 14, 2020 |
| IGHM | 1 | Jul 14, 2020 |
| IGHMBP2 | 1 | Dec 21, 2021 |
| IL1RAPL1 | 1 | Dec 21, 2021 |
| IL21R | 1 | Jul 14, 2020 |
| IQSEC2 | 1 | Dec 21, 2021 |
| IRAK1BP1 | 1 | Dec 21, 2021 |
| IRF2BP2 | 1 | Dec 21, 2021 |
| ITM2B | 1 | Dec 21, 2021 |
| ITPA | 1 | Jul 14, 2020 |
| ITPR1 | 1 | Dec 21, 2021 |
| IVD | 1 | Jul 14, 2020 |
| JAG1 | 2 | Dec 21, 2021 |
| JAM3 | 1 | Aug 5, 2020 |
| JMJD8 | 1 | Dec 21, 2021 |
| KAT6B | 2 | Dec 21, 2021 |
| KCNA5 | 1 | Dec 21, 2021 |
| KCNC1 | 1 | Dec 21, 2021 |
| KCND3 | 1 | Dec 21, 2021 |
| KCNH1 | 1 | Aug 5, 2020 |
| KCNN3 | 1 | Dec 21, 2021 |
| KCNN4 | 1 | Dec 21, 2021 |
| KCNQ2 | 4 | Dec 21, 2021 |
| KCNQ3 | 1 | Dec 21, 2021 |
| KDM6A | 1 | Dec 21, 2021 |
| KIAA0586 | 2 | Dec 21, 2021 |
| KIDINS220 | 1 | Dec 21, 2021 |
| KIF1A | 4 | Dec 21, 2021 |
| KIF1B | 1 | Dec 21, 2021 |
| KIF22 | 1 | Aug 5, 2020 |
| KIF5A | 2 | Dec 21, 2021 |
| KIFBP | 1 | Aug 5, 2020 |
| KIT | 1 | Dec 21, 2021 |
| KMT2A | 2 | Dec 21, 2021 |
| KMT2B | 2 | Dec 21, 2021 |
| KMT2C | 1 | Dec 21, 2021 |
| KMT2D | 6 | Nov 4, 2022 |
| KMT5B | 1 | Dec 21, 2021 |
| L1CAM | 1 | Nov 29, 2021 |
| L2HGDH | 2 | Dec 21, 2021 |
| LAMA2 | 1 | Aug 5, 2020 |
| LAMB2 | 1 | Aug 5, 2020 |
| LAMB3 | 2 | Dec 21, 2021 |
| LARP7 | 1 | Aug 5, 2020 |
| LAS1L | 1 | Dec 21, 2021 |
| LDB3 | 1 | Dec 21, 2021 |
| LDLR | 3 | Dec 21, 2021 |
| LGI4 | 2 | Aug 5, 2020 |
| LIFR | 1 | Dec 21, 2021 |
| LINC00630 | 1 | Dec 21, 2021 |
| LIPA | 1 | Dec 21, 2021 |
| LMX1B | 1 | Dec 21, 2021 |
| LOC100506235 | 1 | Dec 21, 2021 |
| LOC102724058 | 2 | Dec 21, 2021 |
| LOC106099062 | 5 | Nov 29, 2021 |
| LOC106627981 | 8 | Dec 21, 2021 |
| LOC106780800 | 1 | Jul 14, 2020 |
| LOC106804613 | 1 | Dec 21, 2021 |
| LOC107133510 | 6 | Nov 29, 2021 |
| LOC109610631 | 1 | Aug 5, 2020 |
| LOC110006319 | 2 | Aug 5, 2020 |
| LOC110121269 | 1 | Dec 21, 2021 |
| LOC110121486 | 1 | Dec 21, 2021 |
| LOC111674472 | 1 | Jul 14, 2020 |
| LOC114827850 | 1 | Dec 21, 2021 |
| LOC126805890 | 1 | Dec 21, 2021 |
| LOC126806583 | 1 | Dec 21, 2021 |
| LOC126806658 | 1 | Dec 21, 2021 |
| LOC126859712 | 2 | Dec 21, 2021 |
| LOC126859827 | 1 | Aug 5, 2020 |
| LOC126860130 | 1 | Aug 5, 2020 |
| LOC126860369 | 1 | Jul 14, 2020 |
| LOC126861242 | 1 | Jul 14, 2020 |
| LOC126861897 | 1 | Aug 5, 2020 |
| LOC126862156 | 1 | Dec 15, 2021 |
| LOC126862264 | 1 | Dec 21, 2021 |
| LOC126862447 | 1 | Aug 5, 2020 |
| LOC126863158 | 1 | Aug 5, 2020 |
| LOC128772254 | 1 | Aug 5, 2020 |
| LOC129930561 | 1 | Dec 21, 2021 |
| LOC129992813 | 1 | Dec 21, 2021 |
| LOC129994126 | 1 | Aug 5, 2020 |
| LOC129994371 | 1 | Aug 5, 2020 |
| LOC129998796 | 1 | Jul 14, 2020 |
| LOC130003135 | 1 | Aug 5, 2020 |
| LOC130009585 | 1 | Aug 5, 2020 |
| LOC130056453 | 1 | Dec 21, 2021 |
| LOC130062340 | 1 | Jul 14, 2020 |
| LOC130063169 | 1 | Dec 21, 2021 |
| LOX | 1 | Aug 5, 2020 |
| LPL | 4 | Jul 14, 2020 |
| LRBA | 5 | Dec 21, 2021 |
| LRP4 | 2 | Dec 21, 2021 |
| LRP5 | 1 | Dec 21, 2021 |
| LRPPRC | 2 | Nov 4, 2022 |
| LRRC56 | 1 | Dec 21, 2021 |
| LRRK2 | 1 | Dec 21, 2021 |
| LZTR1 | 2 | Dec 21, 2021 |
| MAB21L2 | 1 | Aug 5, 2020 |
| MACF1 | 1 | Dec 21, 2021 |
| MAGEL2 | 1 | Aug 5, 2020 |
| MAN2B1 | 2 | Aug 5, 2020 |
| MAOA | 1 | Dec 21, 2021 |
| MAP1B | 1 | Dec 21, 2021 |
| MAPK8IP3 | 1 | Dec 21, 2021 |
| MAPT | 1 | Dec 21, 2021 |
| MASP1 | 2 | Dec 21, 2021 |
| MBD5 | 3 | Dec 21, 2021 |
| MCOLN1 | 1 | Aug 5, 2020 |
| MECP2 | 5 | Nov 4, 2022 |
| MED12 | 3 | Nov 4, 2022 |
| MED12L | 1 | Dec 21, 2021 |
| MED13 | 1 | Dec 21, 2021 |
| MED13L | 4 | Nov 4, 2022 |
| MED17 | 3 | Dec 21, 2021 |
| MED23 | 2 | Dec 21, 2021 |
| MEF2C | 1 | Dec 21, 2021 |
| MEFV | 2 | Dec 21, 2021 |
| MEIS2 | 1 | Dec 21, 2021 |
| METTL23 | 1 | Aug 5, 2020 |
| MFF-DT | 12 | Feb 22, 2022 |
| MHRT | 1 | Aug 5, 2020 |
| MIB1 | 1 | Dec 21, 2021 |
| MILR1 | 1 | Dec 21, 2021 |
| MIR302CHG | 1 | Aug 5, 2020 |
| MLH1 | 1 | Jul 14, 2020 |
| MMAA | 1 | Jul 14, 2020 |
| MMACHC | 1 | Jul 14, 2020 |
| MOGS | 1 | Aug 5, 2020 |
| MORC2 | 2 | Dec 21, 2021 |
| MPDZ | 1 | Aug 5, 2020 |
| MPV17 | 1 | Jul 14, 2020 |
| MPZ | 1 | Dec 21, 2021 |
| MSH2 | 1 | Dec 21, 2021 |
| MSH3 | 1 | Nov 29, 2021 |
| MSH6 | 3 | Dec 21, 2021 |
| MTHFR | 1 | Nov 29, 2021 |
| MTOR | 2 | Dec 21, 2021 |
| MVP-DT | 2 | Dec 21, 2021 |
| MYBPC3 | 4 | Dec 21, 2021 |
| MYH6 | 1 | Dec 21, 2021 |
| MYH7 | 2 | Dec 21, 2021 |
| MYL2 | 1 | Dec 21, 2021 |
| MYO5A | 1 | Dec 21, 2021 |
| MYOT | 1 | Dec 21, 2021 |
| MYT1L | 1 | Dec 21, 2021 |
| NAGA | 1 | Aug 5, 2020 |
| NAGLU | 3 | Jul 14, 2020 |
| NALCN | 1 | Jul 14, 2020 |
| NBAS | 2 | Dec 21, 2021 |
| NDUFS4 | 1 | Aug 5, 2020 |
| NDUFS6 | 1 | Dec 21, 2021 |
| NDUFV1 | 1 | Jul 14, 2020 |
| NEB | 1 | Dec 21, 2021 |
| NEDD4L | 1 | Dec 21, 2021 |
| NEFH | 1 | Dec 21, 2021 |
| NEXMIF | 2 | Aug 5, 2020 |
| NF1 | 3 | Dec 21, 2021 |
| NFIB | 1 | Dec 21, 2021 |
| NFIX | 1 | Dec 21, 2021 |
| NFKB2 | 2 | Dec 21, 2021 |
| NFKBIA | 1 | Dec 21, 2021 |
| NIPSNAP3B | 1 | Nov 29, 2021 |
| NKX6-2 | 3 | Aug 5, 2020 |
| NLRP12 | 1 | Dec 21, 2021 |
| NLRP3 | 1 | Dec 21, 2021 |
| NOD2 | 1 | Dec 21, 2021 |
| NOTCH3 | 1 | Dec 21, 2021 |
| NPC1 | 78 | Sep 16, 2022 |
| NPHS1 | 1 | Aug 5, 2020 |
| NR3C1 | 2 | Dec 21, 2021 |
| NRXN1 | 1 | Dec 21, 2021 |
| NSD1 | 2 | Dec 21, 2021 |
| NSUN2 | 1 | Aug 5, 2020 |
| NT5DC1 | 1 | Dec 21, 2021 |
| NUS1 | 1 | Dec 21, 2021 |
| OGT | 1 | Dec 21, 2021 |
| OPHN1 | 2 | Dec 21, 2021 |
| OXCT1 | 1 | Jul 14, 2020 |
| P2RX2 | 1 | Dec 21, 2021 |
| PACS1 | 1 | Dec 21, 2021 |
| PAH | 7 | Nov 4, 2022 |
| PAK1 | 2 | Dec 21, 2021 |
| PARS2 | 1 | Aug 5, 2020 |
| PAX6 | 1 | Aug 5, 2020 |
| PBX1 | 1 | Aug 5, 2020 |
| PCCA | 1 | Dec 21, 2021 |
| PCCB | 1 | Aug 5, 2020 |
| PCLO | 2 | Dec 21, 2021 |
| PDE11A | 4 | Dec 21, 2021 |
| PDE11A-AS1 | 2 | Dec 21, 2021 |
| PDGFRA | 1 | Dec 21, 2021 |
| PDGFRB | 2 | Dec 21, 2021 |
| PEX1 | 3 | Nov 4, 2022 |
| PEX2 | 1 | Aug 5, 2020 |
| PEX6 | 3 | Dec 21, 2021 |
| PGAP1 | 2 | Dec 21, 2021 |
| PGAP3 | 2 | Nov 29, 2021 |
| PHEX | 1 | Dec 21, 2021 |
| PHIP | 1 | Dec 21, 2021 |
| PHKA1 | 1 | Dec 21, 2021 |
| PHKG2 | 2 | Jul 14, 2020 |
| PI4KA | 1 | Dec 21, 2021 |
| PIEZO2 | 1 | Aug 5, 2020 |
| PIGN | 4 | Dec 21, 2021 |
| PIGO | 2 | Dec 21, 2021 |
| PIK3CA | 3 | Dec 21, 2021 |
| PINK1 | 2 | Dec 21, 2021 |
| PINK1-AS | 2 | Dec 21, 2021 |
| PKD1 | 1 | Dec 21, 2021 |
| PKD1L1 | 2 | Dec 21, 2021 |
| PKD2 | 1 | Dec 21, 2021 |
| PKD2L2-DT | 1 | Dec 21, 2021 |
| PLA2G6 | 4 | Dec 21, 2021 |
| PLCG2 | 2 | Dec 21, 2021 |
| PLEC | 2 | Dec 21, 2021 |
| PMM2 | 3 | Dec 21, 2021 |
| PMP2 | 1 | Dec 21, 2021 |
| PMS2 | 1 | Dec 21, 2021 |
| PNP | 1 | Dec 21, 2021 |
| POGZ | 2 | Dec 21, 2021 |
| POLA1 | 1 | Dec 21, 2021 |
| POLG | 4 | Dec 21, 2021 |
| POLG2 | 1 | Dec 21, 2021 |
| POLGARF | 4 | Dec 21, 2021 |
| POLR1A | 1 | Dec 21, 2021 |
| POLR1C | 3 | Dec 21, 2021 |
| POLR3A | 1 | Aug 5, 2020 |
| POMT1 | 1 | Aug 5, 2020 |
| POR | 1 | Nov 29, 2021 |
| PPA2 | 1 | Dec 21, 2021 |
| PPOX | 1 | Dec 21, 2021 |
| PPP2R1A | 1 | Dec 17, 2024 |
| PPT1 | 2 | Dec 21, 2021 |
| PREPL | 1 | Aug 5, 2020 |
| PRF1 | 1 | Jul 14, 2020 |
| PRG4 | 3 | Aug 5, 2020 |
| PRKCG | 3 | Dec 21, 2021 |
| PRKN | 7 | Dec 21, 2021 |
| PRNP | 2 | Dec 21, 2021 |
| PRPF31 | 1 | Dec 21, 2021 |
| PRPF31-AS1 | 1 | Dec 21, 2021 |
| PRPS1 | 1 | Dec 21, 2021 |
| PRRT2 | 2 | Dec 21, 2021 |
| PRSS1 | 2 | Jul 14, 2020 |
| PRUNE1 | 2 | Dec 21, 2021 |
| PTCH1 | 2 | Nov 4, 2022 |
| PTCHD1 | 1 | Dec 21, 2021 |
| PTCHD1-AS | 1 | Dec 21, 2021 |
| PTEN | 10 | Dec 21, 2021 |
| PTPN11 | 4 | Dec 21, 2021 |
| PURA | 3 | Dec 21, 2021 |
| PUS3 | 1 | Aug 5, 2020 |
| PYCR1 | 2 | Aug 5, 2020 |
| PYGM | 1 | Dec 21, 2021 |
| RAB27A | 1 | Aug 5, 2020 |
| RAB40AL | 1 | Dec 21, 2021 |
| RAC1 | 1 | Aug 5, 2020 |
| RAF1 | 1 | Dec 21, 2021 |
| RAI1 | 1 | Dec 21, 2021 |
| RALGAPA1 | 1 | Dec 21, 2021 |
| RAPSN | 1 | Nov 29, 2021 |
| RARS2 | 1 | Aug 5, 2020 |
| RASA1 | 2 | Dec 21, 2021 |
| RB1 | 1 | Dec 21, 2021 |
| RELB | 1 | Jul 14, 2020 |
| RELN | 3 | Dec 21, 2021 |
| RERE | 1 | Dec 21, 2021 |
| RIT1 | 1 | Aug 5, 2020 |
| RNASEH2B | 1 | Dec 21, 2021 |
| RNF13 | 1 | Dec 21, 2021 |
| ROBO3 | 2 | Aug 5, 2020 |
| RP1L1 | 1 | Dec 21, 2021 |
| RPGRIP1 | 1 | Aug 5, 2020 |
| RPL36A-HNRNPH2 | 4 | Dec 21, 2021 |
| RPS6KA3 | 2 | Dec 21, 2021 |
| RSPH4A | 2 | Dec 21, 2021 |
| RUBCN | 1 | Dec 21, 2021 |
| RYR1 | 3 | Dec 21, 2021 |
| SAMD9 | 1 | Dec 21, 2021 |
| SATB2 | 1 | Dec 21, 2021 |
| SBDS | 1 | Nov 29, 2021 |
| SC5D | 1 | Nov 4, 2022 |
| SCAMP4 | 3 | Dec 21, 2021 |
| SCN10A | 1 | Dec 21, 2021 |
| SCN1A | 2 | Dec 21, 2021 |
| SCN1A-AS1 | 1 | Dec 21, 2021 |
| SCN2A | 7 | Dec 21, 2021 |
| SCN5A | 3 | Dec 21, 2021 |
| SCN8A | 1 | Dec 21, 2021 |
| SCN9A | 1 | Dec 21, 2021 |
| SCYL1 | 1 | Aug 5, 2020 |
| SELENON | 2 | Dec 21, 2021 |
| SERPINA1 | 1 | Nov 29, 2021 |
| SERPING1 | 1 | Dec 21, 2021 |
| SETBP1 | 1 | Dec 21, 2021 |
| SETD2 | 1 | Dec 21, 2021 |
| SETD5 | 1 | Nov 4, 2022 |
| SETX | 1 | Dec 21, 2021 |
| SGCE | 1 | Dec 21, 2021 |
| SGPL1 | 1 | Aug 5, 2020 |
| SHANK2 | 2 | Dec 21, 2021 |
| SHANK3 | 5 | Dec 21, 2021 |
| SHOC2 | 1 | Dec 21, 2021 |
| SI | 1 | Jul 14, 2020 |
| SIK1 | 1 | Dec 21, 2021 |
| SLC12A3 | 3 | Dec 21, 2021 |
| SLC12A6 | 3 | Dec 21, 2021 |
| SLC19A1 | 1 | Aug 5, 2020 |
| SLC19A3 | 1 | Jul 14, 2020 |
| SLC20A2 | 1 | Dec 21, 2021 |
| SLC22A5 | 3 | Nov 4, 2022 |
| SLC25A15 | 2 | Jul 14, 2020 |
| SLC25A20 | 2 | Dec 21, 2021 |
| SLC25A42 | 1 | Aug 5, 2020 |
| SLC26A5-AS1 | 2 | Dec 21, 2021 |
| SLC34A3 | 1 | Jul 14, 2020 |
| SLC36A1 | 1 | Dec 21, 2021 |
| SLC37A4 | 3 | Jul 14, 2020 |
| SLC3A1 | 2 | Dec 21, 2021 |
| SLC5A1 | 1 | Jul 14, 2020 |
| SLC6A3 | 1 | Dec 21, 2021 |
| SLC6A8 | 1 | Aug 5, 2020 |
| SLC9A6 | 2 | Dec 21, 2021 |
| SLCO1B3 | 1 | Dec 21, 2021 |
| SLCO1B3-SLCO1B7 | 1 | Dec 21, 2021 |
| SLITRK1 | 1 | Dec 21, 2021 |
| SMAD3 | 2 | Dec 21, 2021 |
| SMARCA2 | 1 | Dec 21, 2021 |
| SMN1 | 1 | Jul 14, 2020 |
| SMPD1 | 8 | Nov 29, 2021 |
| SNCB | 1 | Dec 21, 2021 |
| SNX14 | 1 | Dec 21, 2021 |
| SOD1 | 1 | Jul 14, 2020 |
| SON | 1 | Dec 21, 2021 |
| SOX11 | 2 | Nov 4, 2022 |
| SOX4 | 1 | Dec 21, 2021 |
| SPAST | 1 | Dec 21, 2021 |
| SPATA22 | 2 | Jul 14, 2020 |
| SPG11 | 3 | Aug 5, 2020 |
| SPG7 | 3 | Dec 21, 2021 |
| SPRED1 | 1 | Dec 21, 2021 |
| SPTA1 | 3 | Nov 29, 2021 |
| SPTBN2 | 2 | Dec 21, 2021 |
| SPTLC2 | 2 | Dec 21, 2021 |
| SQSTM1 | 1 | Nov 29, 2021 |
| SRFBP1 | 1 | Aug 5, 2020 |
| STAC3 | 1 | Dec 21, 2021 |
| STAG1 | 1 | Dec 21, 2021 |
| STIM1 | 1 | Dec 21, 2021 |
| STUB1 | 2 | Dec 21, 2021 |
| STXBP1 | 1 | Dec 21, 2021 |
| STXBP2 | 1 | Jul 14, 2020 |
| SYNE1 | 3 | Dec 21, 2021 |
| SYNE2 | 1 | Dec 21, 2021 |
| SYNGAP1 | 1 | Dec 21, 2021 |
| SYT1 | 1 | Dec 21, 2021 |
| TAB2 | 1 | Aug 5, 2020 |
| TAF1 | 3 | Dec 21, 2021 |
| TANGO2 | 1 | Jul 14, 2020 |
| TBCD | 1 | Aug 5, 2020 |
| TBCE | 1 | Nov 29, 2021 |
| TBCK | 2 | Dec 21, 2021 |
| TBK1 | 2 | Dec 21, 2021 |
| TBX4 | 1 | Aug 5, 2020 |
| TCF12 | 1 | Dec 21, 2021 |
| TCF3 | 1 | Dec 21, 2021 |
| TCF4 | 5 | Nov 4, 2022 |
| TGFBR2 | 1 | Dec 21, 2021 |
| TGM6 | 1 | Dec 21, 2021 |
| TJP2 | 2 | Jul 14, 2020 |
| TLK2 | 1 | Dec 21, 2021 |
| TLR3 | 1 | Dec 21, 2021 |
| TMEM260 | 2 | Aug 5, 2020 |
| TMPRSS15 | 2 | Jul 14, 2020 |
| TNFRSF13B | 1 | Dec 21, 2021 |
| TNNI2 | 3 | Dec 21, 2021 |
| TNNT2 | 1 | Jul 14, 2020 |
| TNPO3 | 1 | Dec 21, 2021 |
| TNXB | 3 | Dec 21, 2021 |
| TP53 | 3 | Dec 21, 2021 |
| TP63 | 1 | Dec 21, 2021 |
| TPH2 | 1 | Dec 21, 2021 |
| TPM2 | 1 | Dec 21, 2021 |
| TPM3 | 1 | Aug 5, 2020 |
| TRAPPC6B | 1 | Aug 5, 2020 |
| TRAPPC9 | 2 | Dec 21, 2021 |
| TRB | 2 | Jul 14, 2020 |
| TREX1 | 2 | Dec 21, 2021 |
| TRIM71 | 1 | Dec 21, 2021 |
| TRIO | 1 | Dec 21, 2021 |
| TRIP12 | 2 | Dec 21, 2021 |
| TRIP4 | 2 | Dec 15, 2021 |
| TRMT10A | 1 | Aug 5, 2020 |
| TRMU | 1 | Jul 14, 2020 |
| TRPC6 | 1 | Dec 21, 2021 |
| TRPV4 | 2 | Dec 21, 2021 |
| TRRAP | 3 | Dec 21, 2021 |
| TSC1 | 1 | Dec 21, 2021 |
| TSC2 | 3 | Dec 21, 2021 |
| TTBK2 | 1 | Dec 21, 2021 |
| TTN | 7 | Dec 21, 2021 |
| TTN-AS1 | 2 | Dec 21, 2021 |
| TTPA | 1 | Dec 21, 2021 |
| TUBB | 1 | Dec 21, 2021 |
| TUBB4A | 1 | Dec 21, 2021 |
| TUBB6 | 1 | Dec 21, 2021 |
| UBTF | 1 | Dec 21, 2021 |
| UFM1 | 1 | Aug 5, 2020 |
| UGDH | 1 | Aug 5, 2020 |
| UGT1A | 4 | Aug 5, 2020 |
| UGT1A1 | 4 | Aug 5, 2020 |
| UGT1A10 | 4 | Aug 5, 2020 |
| UGT1A3 | 4 | Aug 5, 2020 |
| UGT1A4 | 4 | Aug 5, 2020 |
| UGT1A5 | 4 | Aug 5, 2020 |
| UGT1A6 | 4 | Aug 5, 2020 |
| UGT1A7 | 4 | Aug 5, 2020 |
| UGT1A8 | 4 | Aug 5, 2020 |
| UGT1A9 | 4 | Aug 5, 2020 |
| UNC13D | 1 | Dec 21, 2021 |
| UNC80 | 2 | Dec 21, 2021 |
| UROD | 1 | Nov 29, 2021 |
| USP9X | 2 | Dec 21, 2021 |
| VCP | 1 | Dec 21, 2021 |
| VPS13A | 2 | Dec 21, 2021 |
| VPS13B | 1 | Aug 5, 2020 |
| VRK1 | 2 | Dec 21, 2021 |
| VWF | 2 | Dec 21, 2021 |
| WAC | 1 | Dec 21, 2021 |
| WDPCP | 1 | Aug 5, 2020 |
| WDR26 | 1 | Dec 21, 2021 |
| WDR45 | 1 | Dec 21, 2021 |
| WDR62 | 2 | Dec 21, 2021 |
| WFS1 | 1 | Dec 21, 2021 |
| WWOX | 2 | Dec 21, 2021 |
| XIAP | 1 | Jul 14, 2020 |
| XRCC2 | 1 | Aug 5, 2020 |
| XYLT2 | 1 | Aug 5, 2020 |
| YY1 | 1 | Dec 21, 2021 |
| ZBTB20 | 1 | Dec 21, 2021 |
| ZBTB24 | 1 | Jul 14, 2020 |
| ZC4H2 | 1 | Dec 21, 2021 |
| ZDHHC9 | 1 | Dec 21, 2021 |
| ZEB2 | 3 | Dec 21, 2021 |
| ZIC1 | 1 | Dec 21, 2021 |
| ZMYND11 | 1 | Dec 21, 2021 |
| ZP3 | 1 | Dec 21, 2021 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 11p partial monosomy syndrome | 1 test |
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 1 test |
| 3-Methylglutaconic aciduria type 2 | 1 test |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 1 test |
| 3-hydroxyisobutyryl-CoA hydrolase deficiency | 1 test |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 1 test |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 1 test |
| 3-methylglutaconic aciduria type 1 | 1 test |
| 3-methylglutaconic aciduria type 5 | 1 test |
| 3-methylglutaconic aciduria type 8 | 1 test |
| 3-methylglutaconic aciduria type 9 | 1 test |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 test |
| 3M syndrome 1 | 1 test |
| 3MC syndrome 1 | 1 test |
| 46,XY sex reversal 7 | 1 test |
| 5p partial monosomy syndrome | 1 test |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 1 test |
| ABCD syndrome | 1 test |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 test |
| ADan amyloidosis | 1 test |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 test |
| AICA-ribosiduria | 1 test |
| ALG1-congenital disorder of glycosylation | 1 test |
| ALG11-congenital disorder of glycosylation | 1 test |
| ALG12-congenital disorder of glycosylation | 1 test |
| ALG3-congenital disorder of glycosylation | 1 test |
| ALG6-congenital disorder of glycosylation 1C | 1 test |
| ALG8 congenital disorder of glycosylation | 1 test |
| Aarskog syndrome | 1 test |
| Abetalipoproteinaemia | 1 test |
| Abortive cerebellar ataxia | 1 test |
| Acatalasia | 1 test |
| Acetyl-CoA: carboxylase deficiency | 1 test |
| Achromatopsia 3 | 1 test |
| Acquired hemoglobin H disease | 1 test |
| Acrocallosal syndrome | 1 test |
| Actin accumulation myopathy | 1 test |
| Action myoclonus-renal failure syndrome | 1 test |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 1 test |
| Acute intermittent porphyria | 1 test |
| Acute promyelocytic leukemia | 1 test |
| Acyl-CoA dehydrogenase 9 deficiency | 1 test |
| Adams-Oliver syndrome 1 | 1 test |
| Adams-Oliver syndrome 2 | 1 test |
| Adenosine kinase deficiency | 1 test |
| Adenylosuccinate lyase deficiency | 1 test |
| Adrenoleukodystrophy | 1 test |
| Adult hypophosphatasia | 1 test |
| Adult polyglucosan body disease | 1 test |
| Advanced sleep phase syndrome 1 | 1 test |
| Age related macular degeneration 7 | 1 test |
| Agenesis of the corpus callosum with peripheral neuropathy | 1 test |
| Agnathia-otocephaly complex | 1 test |
| Aicardi-Goutieres syndrome 2 | 1 test |
| Aicardi-Goutieres syndrome 3 | 1 test |
| Aicardi-Goutieres syndrome 4 | 1 test |
| Aicardi-Goutieres syndrome 5 | 1 test |
| Alacrima, achalasia, and intellectual disability syndrome | 1 test |
| Alazami-Yuan syndrome | 1 test |
| Alcohol sensitivity, acute | 1 test |
| Alexander disease | 1 test |
| Alkuraya-Kucinskas syndrome | 1 test |
| Allan-Herndon-Dudley syndrome | 1 test |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | 1 test |
| Alpha-methylacyl-CoA racemase deficiency | 1 test |
| Alveolar rhabdomyosarcoma | 1 test |
| Alzheimer disease 2 | 1 test |
| Alzheimer disease 3 | 1 test |
| Alzheimer disease 9 | 1 test |
| Amelocerebrohypohidrotic syndrome | 1 test |
| Aminoacylase 1 deficiency | 1 test |
| Aminoglycoside-induced deafness | 1 test |
| Amish lethal microcephaly | 1 test |
| Amyloidosis, hereditary systemic 1 | 1 test |
| Amyotrophic lateral sclerosis type 1 | 1 test |
| Amyotrophic lateral sclerosis type 10 | 1 test |
| Amyotrophic lateral sclerosis type 12 | 1 test |
| Amyotrophic lateral sclerosis type 15 | 1 test |
| Amyotrophic lateral sclerosis type 18 | 1 test |
| Amyotrophic lateral sclerosis type 19 | 1 test |
| Amyotrophic lateral sclerosis type 20 | 1 test |
| Amyotrophic lateral sclerosis type 21 | 1 test |
| Amyotrophic lateral sclerosis type 22 | 1 test |
| Amyotrophic lateral sclerosis type 4 | 1 test |
| Amyotrophic lateral sclerosis type 6 | 1 test |
| Amyotrophic lateral sclerosis type 8 | 1 test |
| Amyotrophic lateral sclerosis type 9 | 1 test |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | 1 test |
| Anauxetic dysplasia 2 | 1 test |
| Andersen Tawil syndrome | 1 test |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 test |
| Angelman syndrome | 1 test |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 test |
| Anterior segment dysgenesis 7 | 1 test |
| Antigen in Cartwright blood group system | 1 test |
| Anxiety | 1 test |
| Aortic valve disease 1 | 1 test |
| Aplastic anemia | 1 test |
| Arginase deficiency | 1 test |
| Argininosuccinate lyase deficiency | 1 test |
| Arrhythmogenic right ventricular dysplasia 1 | 1 test |
| Arrhythmogenic right ventricular dysplasia 13 | 1 test |
| Arterial tortuosity syndrome | 1 test |
| Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | 1 test |
| Arthrogryposis multiplex congenita 5 | 1 test |
| Arthrogryposis multiplex congenita 6 | 1 test |
| Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | 1 test |
| Arthrogryposis, distal, type 2B2 | 1 test |
| Arthrogryposis, distal, with impaired proprioception and touch | 1 test |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 1 test |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | 1 test |
| Aspartylglucosaminuria | 1 test |
| Asperger syndrome, X-linked, susceptibility to, 1 | 1 test |
| Asphyxiating thoracic dystrophy 3 | 1 test |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 1 test |
| Ataxia with oculomotor apraxia type 3 | 1 test |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 test |
| Ataxia-telangiectasia syndrome | 1 test |
| Ataxia-telangiectasia-like disorder 1 | 1 test |
| Athabaskan Brain Stem Dysgenesis Syndrome (ABDS) | 1 test |
| Atypical glycine encephalopathy | 1 test |
| Auditory neuropathy-optic atrophy syndrome | 1 test |
| Autism spectrum disorder - epilepsy - arthrogryposis syndrome | 1 test |
| Autism spectrum disorder due to AUTS2 deficiency | 1 test |
| Autism, susceptibility to, 15 | 1 test |
| Autism, susceptibility to, 16 | 1 test |
| Autism, susceptibility to, 17 | 1 test |
| Autism, susceptibility to, X-linked 2 | 1 test |
| Autism, susceptibility to, X-linked 3 | 1 test |
| Autism, susceptibility to, X-linked 4 | 1 test |
| Autoimmune thyroid disease, susceptibility to, 3 | 1 test |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 1 test |
| Autosomal dominant Parkinson disease 4 | 1 test |
| Autosomal dominant Parkinson disease 8 | 1 test |
| Autosomal dominant Robinow syndrome 1 | 1 test |
| Autosomal dominant Robinow syndrome 3 | 1 test |
| Autosomal dominant auditory neuropathy 1 | 1 test |
| Autosomal dominant centronuclear myopathy | 1 test |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 1 test |
| Autosomal dominant hypocalcemia 1 | 1 test |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 test |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 test |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 1 test |
| Autosomal dominant limb-girdle muscular dystrophy type 1G | 1 test |
| Autosomal dominant mitochondrial myopathy with exercise intolerance | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 1 test |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 test |
| Autosomal dominant non-syndromic intellectual disability | 1 test |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 13 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 27 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 64 | 1 test |
| Autosomal dominant pseudohypoaldosteronism type 1 | 1 test |
| Autosomal dominant sensory ataxia 1 | 1 test |
| Autosomal dominant sideroblastic anemia | 1 test |
| Autosomal dominant slowed nerve conduction velocity | 1 test |
| Autosomal recessive DOPA responsive dystonia | 1 test |
| Autosomal recessive Kenny-Caffey syndrome | 1 test |
| Autosomal recessive Robinow syndrome | 1 test |
| Autosomal recessive ataxia due to ubiquinone deficiency | 1 test |
| Autosomal recessive ataxia, Beauce type | 1 test |
| Autosomal recessive axonal neuropathy with neuromyotonia | 1 test |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 1 test |
| Autosomal recessive cutis laxa type 2B | 1 test |
| Autosomal recessive cutis laxa type 2D | 1 test |
| Autosomal recessive distal spinal muscular atrophy 2 | 1 test |
| Autosomal recessive early-onset Parkinson disease 23 | 1 test |
| Autosomal recessive early-onset Parkinson disease 6 | 1 test |
| Autosomal recessive early-onset Parkinson disease 7 | 1 test |
| Autosomal recessive inherited pseudoxanthoma elasticum | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2R1 | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2W | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2X | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2Y | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 1 test |
| Autosomal recessive multiple pterygium syndrome | 1 test |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 test |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 48 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 74 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 89 | 1 test |
| Autosomal recessive omodysplasia | 1 test |
| Autosomal recessive optic atrophy, OPA7 type | 1 test |
| Autosomal recessive osteopetrosis 1 | 1 test |
| Autosomal recessive proximal renal tubular acidosis | 1 test |
| Autosomal recessive spastic paraplegia type 76 | 1 test |
| Autosomal recessive spinocerebellar ataxia 10 | 1 test |
| Autosomal recessive spinocerebellar ataxia 12 | 1 test |
| Autosomal recessive spinocerebellar ataxia 13 | 1 test |
| Autosomal recessive spinocerebellar ataxia 15 | 1 test |
| Autosomal recessive spinocerebellar ataxia 16 | 1 test |
| Autosomal recessive spinocerebellar ataxia 17 | 1 test |
| Autosomal recessive spinocerebellar ataxia 18 | 1 test |
| Autosomal recessive spinocerebellar ataxia 2 | 1 test |
| Autosomal recessive spinocerebellar ataxia 20 | 1 test |
| Autosomal recessive spinocerebellar ataxia 7 | 1 test |
| Autosomal recessive spondylometaphyseal dysplasia, Megarbane type | 1 test |
| Axenfeld-Rieger syndrome type 1 | 1 test |
| Axenfeld-Rieger syndrome type 3 | 1 test |
| Ayme-Gripp syndrome | 1 test |
| B4GALT1-congenital disorder of glycosylation | 1 test |
| BENTA disease | 1 test |
| Bailey-Bloch congenital myopathy | 1 test |
| Band heterotopia of brain | 1 test |
| Baraitser-Winter syndrome 1 | 1 test |
| Baraitser-winter syndrome 2 | 1 test |
| Bardet-Biedl syndrome 1 | 1 test |
| Bardet-Biedl syndrome 10 | 1 test |
| Bardet-Biedl syndrome 11 | 1 test |
| Bardet-Biedl syndrome 12 | 1 test |
| Bardet-Biedl syndrome 13 | 1 test |
| Bardet-Biedl syndrome 14 | 1 test |
| Bardet-Biedl syndrome 17 | 1 test |
| Bardet-Biedl syndrome 19 | 1 test |
| Bardet-Biedl syndrome 3 | 1 test |
| Bardet-Biedl syndrome 4 | 1 test |
| Bardet-Biedl syndrome 5 | 1 test |
| Bardet-Biedl syndrome 6 | 1 test |
| Bardet-Biedl syndrome 7 | 1 test |
| Bardet-Biedl syndrome 9 | 1 test |
| Bardet-biedl syndrome 21 | 1 test |
| Barrett esophagus | 1 test |
| Bartter disease type 2 | 1 test |
| Bartter disease type 4A | 1 test |
| Bartter disease type 4B | 1 test |
| Basal ganglia calcification, idiopathic, 5 | 1 test |
| Basal ganglia calcification, idiopathic, 6 | 1 test |
| Basal ganglia calcification, idiopathic, 7, autosomal recessive | 1 test |
| Basal ganglia calcification, idiopathic, 8, autosomal recessive | 1 test |
| Becker muscular dystrophy | 1 test |
| Beta-D-mannosidosis | 1 test |
| Bethlem myopathy 1A | 1 test |
| Bethlem myopathy 2 | 1 test |
| Bifunctional peroxisomal enzyme deficiency | 1 test |
| Bilateral frontoparietal polymicrogyria | 1 test |
| Bilateral parasagittal parieto-occipital polymicrogyria | 1 test |
| Biotin-responsive basal ganglia disease | 1 test |
| Biotinidase deficiency | 1 test |
| Birk-Barel syndrome | 1 test |
| Bleeding disorder, platelet-type, 24 | 1 test |
| Blepharophimosis-impaired intellectual development syndrome | 1 test |
| Borjeson-Forssman-Lehmann syndrome | 1 test |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 test |
| Brain small vessel disease 1 with or without ocular anomalies | 1 test |
| Brain small vessel disease 2A, autosomal dominant | 1 test |
| Brain small vessel disease 3 | 1 test |
| Branched-chain keto acid dehydrogenase kinase deficiency | 1 test |
| Branchiooculofacial syndrome | 1 test |
| Brody myopathy | 1 test |
| Brooke-Spiegler syndrome | 1 test |
| Brown-Vialetto-van Laere syndrome 1 | 1 test |
| Brown-Vialetto-van Laere syndrome 2 | 1 test |
| Bruck syndrome 1 | 1 test |
| Bruck syndrome 2 | 1 test |
| Brugada syndrome 4 | 1 test |
| Brugada syndrome 6 | 1 test |
| Brunner syndrome | 1 test |
| C syndrome | 1 test |
| CCDC115-CDG | 1 test |
| CEDNIK syndrome | 1 test |
| CHIME syndrome | 1 test |
| COACH syndrome 2 | 1 test |
| CODAS syndrome | 1 test |
| COG1 congenital disorder of glycosylation | 1 test |
| COG5-congenital disorder of glycosylation | 1 test |
| COG6-congenital disorder of glycosylation | 1 test |
| COG7 congenital disorder of glycosylation | 1 test |
| COG8-congenital disorder of glycosylation | 1 test |
| CTCF-related neurodevelopmental disorder | 1 test |
| Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | 1 test |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 test |
| Cardiac arrhythmia, ankyrin-B-related | 1 test |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 1 test |
| Cardiac, facial, and digital anomalies with developmental delay | 1 test |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 1 test |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 1 test |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | 1 test |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 1 test |
| Cardiofaciocutaneous syndrome 2 | 1 test |
| Cardiofaciocutaneous syndrome 4 | 1 test |
| Cardiomyopathy-hypotonia-lactic acidosis syndrome | 1 test |
| Carney complex - trismus - pseudocamptodactyly syndrome | 1 test |
| Carnitine acylcarnitine translocase deficiency | 1 test |
| Carnitine palmitoyl transferase 1A deficiency | 1 test |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 1 test |
| Cataract 38 | 1 test |
| Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | 1 test |
| Cayman type cerebellar ataxia | 1 test |
| Celiac disease, susceptibility to, 4 | 1 test |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 1 test |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 1 test |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 1 test |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | 1 test |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 1 test |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 test |
| Cerebellar ataxia-hypogonadism syndrome | 1 test |
| Cerebellar atrophy with seizures and variable developmental delay | 1 test |
| Cerebellar atrophy, developmental delay, and seizures | 1 test |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 1 test |
| Cerebral amyloid angiopathy, APP-related | 1 test |
| Cerebral cavernous malformation | 1 test |
| Cerebral cavernous malformation 2 | 1 test |
| Cerebral cavernous malformation 3 | 1 test |
| Cerebral folate transport deficiency | 1 test |
| Cerebral palsy, spastic quadriplegic, 2 | 1 test |
| Cerebrooculofacioskeletal syndrome 1 | 1 test |
| Cerebrooculofacioskeletal syndrome 4 | 1 test |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 1 test |
| Cernunnos-XLF deficiency | 1 test |
| Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 1 test |
| Ceroid lipofuscinosis, neuronal, 6A | 1 test |
| Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | 1 test |
| Char syndrome | 1 test |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 test |
| Charcot-Marie-Tooth disease X-linked dominant 6 | 1 test |
| Charcot-Marie-Tooth disease axonal type 2F | 1 test |
| Charcot-Marie-Tooth disease axonal type 2L | 1 test |
| Charcot-Marie-Tooth disease axonal type 2P | 1 test |
| Charcot-Marie-Tooth disease axonal type 2Q | 1 test |
| Charcot-Marie-Tooth disease axonal type 2S | 1 test |
| Charcot-Marie-Tooth disease axonal type 2X | 1 test |
| Charcot-Marie-Tooth disease dominant intermediate E | 1 test |
| Charcot-Marie-Tooth disease dominant intermediate F | 1 test |
| Charcot-Marie-Tooth disease recessive intermediate A | 1 test |
| Charcot-Marie-Tooth disease recessive intermediate D | 1 test |
| Charcot-Marie-Tooth disease type 1C | 1 test |
| Charcot-Marie-Tooth disease type 1D | 1 test |
| Charcot-Marie-Tooth disease type 2A2 | 1 test |
| Charcot-Marie-Tooth disease type 2B | 1 test |
| Charcot-Marie-Tooth disease type 2B2 | 1 test |
| Charcot-Marie-Tooth disease type 2R | 1 test |
| Charcot-Marie-Tooth disease type 4B1 | 1 test |
| Charcot-Marie-Tooth disease type 4B2 | 1 test |
| Charcot-Marie-Tooth disease type 4B3 | 1 test |
| Charcot-Marie-Tooth disease type 4C | 1 test |
| Charcot-Marie-Tooth disease type 4D | 1 test |
| Charcot-Marie-Tooth disease type 4F | 1 test |
| Charcot-Marie-Tooth disease type 4G | 1 test |
| Charcot-Marie-Tooth disease type 4H | 1 test |
| Charcot-Marie-Tooth disease type 4K | 1 test |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 1 test |
| Charcot-Marie-Tooth disease, type IA | 1 test |
| Charcot-Marie-tooth disease, axonal, type 2DD | 1 test |
| Charlevoix-Saguenay spastic ataxia | 1 test |
| Child syndrome | 1 test |
| Childhood apraxia of speech | 1 test |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 1 test |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 test |
| Cholestanol storage disease | 1 test |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | 1 test |
| Chondrodysplasia punctata 2 X-linked dominant | 1 test |
| Christianson syndrome | 1 test |
| Chromosome 15q13.3 microdeletion syndrome | 1 test |
| Chromosome 1p32-p31 deletion syndrome | 1 test |
| Chromosome 2q32-q33 deletion syndrome | 1 test |
| Chuvash polycythemia | 1 test |
| Chédiak-Higashi syndrome | 1 test |
| Ciliary dyskinesia, primary, 44 | 1 test |
| Cirrhosis, familial | 1 test |
| Citrullinemia type I | 1 test |
| Citrullinemia, type II, adult-onset | 1 test |
| Clark-Baraitser syndrome | 1 test |
| Classic dopamine transporter deficiency syndrome | 1 test |
| Classic homocystinuria | 1 test |
| Cleft lip/palate-ectodermal dysplasia syndrome | 1 test |
| Clubfoot | 1 test |
| Cobalamin C disease | 1 test |
| Cobblestone lissencephaly without muscular or ocular involvement | 1 test |
| Coenzyme Q10 deficiency, primary, 3 | 1 test |
| Coffin-Siris syndrome 1 | 1 test |
| Coffin-Siris syndrome 6 | 1 test |
| Coffin-Siris syndrome 7 | 1 test |
| Coffin-Siris syndrome 8 | 1 test |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 1 test |
| Cohen syndrome | 1 test |
| Cold-induced sweating syndrome 1 | 1 test |
| Cole-Carpenter syndrome 1 | 1 test |
| Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 1 test |
| Combined deficiency of sialidase AND beta galactosidase | 1 test |
| Combined immunodeficiency due to DOCK8 deficiency | 1 test |
| Combined immunodeficiency due to LRBA deficiency | 1 test |
| Combined immunodeficiency due to STIM1 deficiency | 1 test |
| Combined malonic and methylmalonic acidemia | 1 test |
| Combined oxidative phosphorylation defect type 13 | 1 test |
| Combined oxidative phosphorylation defect type 17 | 1 test |
| Combined oxidative phosphorylation defect type 2 | 1 test |
| Combined oxidative phosphorylation defect type 20 | 1 test |
| Combined oxidative phosphorylation defect type 21 | 1 test |
| Combined oxidative phosphorylation defect type 23 | 1 test |
| Combined oxidative phosphorylation defect type 24 | 1 test |
| Combined oxidative phosphorylation defect type 25 | 1 test |
| Combined oxidative phosphorylation defect type 26 | 1 test |
| Combined oxidative phosphorylation defect type 27 | 1 test |
| Combined oxidative phosphorylation defect type 30 | 1 test |
| Combined oxidative phosphorylation defect type 4 | 1 test |
| Combined oxidative phosphorylation defect type 7 | 1 test |
| Combined oxidative phosphorylation defect type 9 | 1 test |
| Combined oxidative phosphorylation deficiency 22 | 1 test |
| Combined oxidative phosphorylation deficiency 28 | 1 test |
| Combined oxidative phosphorylation deficiency 32 | 1 test |
| Combined oxidative phosphorylation deficiency 33 | 1 test |
| Combined oxidative phosphorylation deficiency 35 | 1 test |
| Combined oxidative phosphorylation deficiency 36 | 1 test |
| Combined oxidative phosphorylation deficiency 39 | 1 test |
| Combined oxidative phosphorylation deficiency 44 | 1 test |
| Complex cortical dysplasia with other brain malformations 2 | 1 test |
| Complex cortical dysplasia with other brain malformations 3 | 1 test |
| Complex cortical dysplasia with other brain malformations 4 | 1 test |
| Complex cortical dysplasia with other brain malformations 5 | 1 test |
| Complex cortical dysplasia with other brain malformations 7 | 1 test |
| Cone-rod dystrophy 7 | 1 test |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 1 test |
| Congenital anomalies of kidney and urinary tract 1 | 1 test |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 test |
| Congenital bile acid synthesis defect 3 | 1 test |
| Congenital bile acid synthesis defect 5 | 1 test |
| Congenital brain dysgenesis due to glutamine synthetase deficiency | 1 test |
| Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | 1 test |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 1 test |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 test |
| Congenital disorder of deglycosylation 1 | 1 test |
| Congenital disorder of glycosylation type 1E | 1 test |
| Congenital disorder of glycosylation type Ir | 1 test |
| Congenital disorder of glycosylation with defective fucosylation 1 | 1 test |
| Congenital disorder of glycosylation, type IAA | 1 test |
| Congenital disorder of glycosylation, type IIr | 1 test |
| Congenital fibrosis of extraocular muscles type 1 | 1 test |
| Congenital generalized lipodystrophy type 3 | 1 test |
| Congenital generalized lipodystrophy type 4 | 1 test |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 1 test |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 1 test |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 1 test |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 1 test |
| Congenital multicore myopathy with external ophthalmoplegia | 1 test |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 1 test |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | 1 test |
| Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | 1 test |
| Congenital muscular hypertrophy-cerebral syndrome | 1 test |
| Congenital myasthenic syndrome 10 | 1 test |
| Congenital myasthenic syndrome 11 | 1 test |
| Congenital myasthenic syndrome 12 | 1 test |
| Congenital myasthenic syndrome 14 | 1 test |
| Congenital myasthenic syndrome 18 | 1 test |
| Congenital myasthenic syndrome 19 | 1 test |
| Congenital myasthenic syndrome 20 | 1 test |
| Congenital myasthenic syndrome 21 | 1 test |
| Congenital myasthenic syndrome 2C | 1 test |
| Congenital myasthenic syndrome 3C | 1 test |
| Congenital myasthenic syndrome 4B | 1 test |
| Congenital myasthenic syndrome 7 | 1 test |
| Congenital myasthenic syndrome 8 | 1 test |
| Congenital myopathy 23 | 1 test |
| Congenital myopathy 4B, autosomal recessive | 1 test |
| Congenital myopathy with fiber type disproportion | 1 test |
| Congenital myopathy with internal nuclei and atypical cores | 1 test |
| Congenital myopathy with reduced type 2 muscle fibers | 1 test |
| Congenital myotonia, autosomal recessive form | 1 test |
| Congenital nongoitrous hypothyroidism 6 | 1 test |
| Congenital nonprogressive myopathy with Moebius and Robin sequences | 1 test |
| Congenital sensory neuropathy with selective loss of small myelinated fibers | 1 test |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 1 test |
| Congenital stationary night blindness 1C | 1 test |
| Congenital vertical talus | 1 test |
| Conotruncal heart malformations | 1 test |
| Corneal dystrophy, Fuchs endothelial, 3 | 1 test |
| Cornelia de Lange syndrome 1 | 1 test |
| Cornelia de Lange syndrome 3 | 1 test |
| Cornelia de Lange syndrome 4 | 1 test |
| Cornelia de Lange syndrome 5 | 1 test |
| Corpus callosum agenesis-abnormal genitalia syndrome | 1 test |
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | 1 test |
| Cortical dysplasia, complex, with other brain malformations 9 | 1 test |
| Cortisone reductase deficiency 2 | 1 test |
| Costello syndrome | 1 test |
| Cowden syndrome 7 | 1 test |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 1 test |
| Craniofacial dysplasia - osteopenia syndrome | 1 test |
| Craniosynostosis 2 | 1 test |
| Craniosynostosis 6 | 1 test |
| Creatine transporter deficiency | 1 test |
| Cutis laxa, autosomal dominant 2 | 1 test |
| Cystic leukoencephalopathy without megalencephaly | 1 test |
| Cystinuria | 1 test |
| D,L-2-hydroxyglutaric aciduria | 1 test |
| D-2-hydroxyglutaric aciduria 1 | 1 test |
| D-2-hydroxyglutaric aciduria 2 | 1 test |
| D-Glyceric aciduria | 1 test |
| DEGCAGS syndrome | 1 test |
| DK1-congenital disorder of glycosylation | 1 test |
| DPAGT1-congenital disorder of glycosylation | 1 test |
| DYRK1A-related intellectual disability syndrome | 1 test |
| Danon disease | 1 test |
| DeSanto-Shinawi syndrome due to WAC point mutation | 1 test |
| Deafness dystonia syndrome | 1 test |
| Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | 1 test |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 1 test |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 1 test |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 test |
| Deficiency of acetyl-CoA acetyltransferase | 1 test |
| Deficiency of alpha-mannosidase | 1 test |
| Deficiency of aromatic-L-amino-acid decarboxylase | 1 test |
| Deficiency of beta-ureidopropionase | 1 test |
| Deficiency of butyryl-CoA dehydrogenase | 1 test |
| Deficiency of cytochrome-b5 reductase | 1 test |
| Deficiency of ferroxidase | 1 test |
| Deficiency of guanidinoacetate methyltransferase | 1 test |
| Deficiency of hyaluronoglucosaminidase | 1 test |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 1 test |
| Deficiency of iodide peroxidase | 1 test |
| Deficiency of isobutyryl-CoA dehydrogenase | 1 test |
| Deficiency of malonyl-CoA decarboxylase | 1 test |
| Deficiency of phosphoserine phosphatase | 1 test |
| Deficiency of ribose-5-phosphate isomerase | 1 test |
| Deficiency of steroid 11-beta-monooxygenase | 1 test |
| Dent disease type 2 | 1 test |
| Desmosterolosis | 1 test |
| Developmental and epileptic encephalopathy 101 | 1 test |
| Developmental and epileptic encephalopathy 89 | 1 test |
| Developmental and epileptic encephalopathy 92 | 1 test |
| Developmental and epileptic encephalopathy 94 | 1 test |
| Developmental and epileptic encephalopathy, 12 | 1 test |
| Developmental and epileptic encephalopathy, 18 | 1 test |
| Developmental and epileptic encephalopathy, 2 | 1 test |
| Developmental and epileptic encephalopathy, 21 | 1 test |
| Developmental and epileptic encephalopathy, 23 | 1 test |
| Developmental and epileptic encephalopathy, 24 | 1 test |
| Developmental and epileptic encephalopathy, 25 | 1 test |
| Developmental and epileptic encephalopathy, 26 | 1 test |
| Developmental and epileptic encephalopathy, 27 | 1 test |
| Developmental and epileptic encephalopathy, 3 | 1 test |
| Developmental and epileptic encephalopathy, 30 | 1 test |
| Developmental and epileptic encephalopathy, 31A | 1 test |
| Developmental and epileptic encephalopathy, 32 | 1 test |
| Developmental and epileptic encephalopathy, 33 | 1 test |
| Developmental and epileptic encephalopathy, 34 | 1 test |
| Developmental and epileptic encephalopathy, 36 | 1 test |
| Developmental and epileptic encephalopathy, 37 | 1 test |
| Developmental and epileptic encephalopathy, 38 | 1 test |
| Developmental and epileptic encephalopathy, 39 | 1 test |
| Developmental and epileptic encephalopathy, 4 | 1 test |
| Developmental and epileptic encephalopathy, 40 | 1 test |
| Developmental and epileptic encephalopathy, 41 | 1 test |
| Developmental and epileptic encephalopathy, 42 | 1 test |
| Developmental and epileptic encephalopathy, 43 | 1 test |
| Developmental and epileptic encephalopathy, 44 | 1 test |
| Developmental and epileptic encephalopathy, 45 | 1 test |
| Developmental and epileptic encephalopathy, 46 | 1 test |
| Developmental and epileptic encephalopathy, 47 | 1 test |
| Developmental and epileptic encephalopathy, 49 | 1 test |
| Developmental and epileptic encephalopathy, 5 | 1 test |
| Developmental and epileptic encephalopathy, 50 | 1 test |
| Developmental and epileptic encephalopathy, 51 | 1 test |
| Developmental and epileptic encephalopathy, 52 | 1 test |
| Developmental and epileptic encephalopathy, 54 | 1 test |
| Developmental and epileptic encephalopathy, 55 | 1 test |
| Developmental and epileptic encephalopathy, 56 | 1 test |
| Developmental and epileptic encephalopathy, 57 | 1 test |
| Developmental and epileptic encephalopathy, 59 | 1 test |
| Developmental and epileptic encephalopathy, 60 | 1 test |
| Developmental and epileptic encephalopathy, 61 | 1 test |
| Developmental and epileptic encephalopathy, 62 | 1 test |
| Developmental and epileptic encephalopathy, 63 | 1 test |
| Developmental and epileptic encephalopathy, 64 | 1 test |
| Developmental and epileptic encephalopathy, 65 | 1 test |
| Developmental and epileptic encephalopathy, 66 | 1 test |
| Developmental and epileptic encephalopathy, 67 | 1 test |
| Developmental and epileptic encephalopathy, 68 | 1 test |
| Developmental and epileptic encephalopathy, 69 | 1 test |
| Developmental and epileptic encephalopathy, 70 | 1 test |
| Developmental and epileptic encephalopathy, 72 | 1 test |
| Developmental and epileptic encephalopathy, 73 | 1 test |
| Developmental and epileptic encephalopathy, 75 | 1 test |
| Developmental and epileptic encephalopathy, 77 | 1 test |
| Developmental and epileptic encephalopathy, 78 | 1 test |
| Developmental and epileptic encephalopathy, 79 | 1 test |
| Developmental and epileptic encephalopathy, 8 | 1 test |
| Developmental and epileptic encephalopathy, 80 | 1 test |
| Developmental and epileptic encephalopathy, 82 | 1 test |
| Developmental and epileptic encephalopathy, 83 | 1 test |
| Developmental and epileptic encephalopathy, 9 | 1 test |
| Developmental delay with autism spectrum disorder and gait instability | 1 test |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 1 test |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 test |
| Diabetes mellitus, permanent neonatal 3 | 1 test |
| Diamond-Blackfan anemia 5 | 1 test |
| Dias-Logan syndrome | 1 test |
| Dicarboxylic aminoaciduria | 1 test |
| Diencephalic-mesencephalic junction dysplasia syndrome 1 | 1 test |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 test |
| Dihydropteridine reductase deficiency | 1 test |
| Dihydropyrimidinase deficiency | 1 test |
| Dihydropyrimidine dehydrogenase deficiency | 1 test |
| Dilated cardiomyopathy 1C | 1 test |
| Dilated cardiomyopathy 1L | 1 test |
| Dilated cardiomyopathy 1NN | 1 test |
| Dilated cardiomyopathy 1V | 1 test |
| Dimethylglycine dehydrogenase deficiency | 1 test |
| Distal arthrogryposis type 2B1 | 1 test |
| Distal arthrogryposis type 5D | 1 test |
| Distal myopathy, Tateyama type | 1 test |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 test |
| Dyskeratosis congenita, X-linked | 1 test |
| Dyskeratosis congenita, autosomal dominant 3 | 1 test |
| Dyskinesia with orofacial involvement, autosomal dominant | 1 test |
| Dyskinesia with orofacial involvement, autosomal recessive | 1 test |
| Dystonia 16 | 1 test |
| Dystonia 24 | 1 test |
| Dystonia 25 | 1 test |
| Dystonia 28, childhood-onset | 1 test |
| Dystonia 32 | 1 test |
| Dystonia 9 | 1 test |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 1 test |
| EAST syndrome | 1 test |
| Early-onset Parkinson disease 20 | 1 test |
| Early-onset autosomal dominant Alzheimer disease | 1 test |
| Early-onset myopathy with fatal cardiomyopathy | 1 test |
| Early-onset parkinsonism-intellectual disability syndrome | 1 test |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 1 test |
| Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 1 test |
| Ectopia lentis 1, isolated, autosomal dominant | 1 test |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 1 test |
| Ehlers-Danlos syndrome, musculocontractural type 1 | 1 test |
| Elsahy-Waters syndrome | 1 test |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 test |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 1 test |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 1 test |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | 1 test |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 test |
| Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 1 test |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 1 test |
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 1 test |
| Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive | 1 test |
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 1 test |
| Epilepsy with myoclonic atonic seizures | 1 test |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 test |
| Epilepsy, childhood absence, susceptibility to, 6 | 1 test |
| Epilepsy, early-onset, vitamin B6-dependent | 1 test |
| Epilepsy, early-onset, with or without developmental delay | 1 test |
| Epilepsy, familial focal, with variable foci 1 | 1 test |
| Epilepsy, familial focal, with variable foci 2 | 1 test |
| Epilepsy, familial focal, with variable foci 3 | 1 test |
| Epilepsy, familial temporal lobe, 1 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 1 test |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 test |
| Epilepsy, juvenile myoclonic, susceptibility to, 10 | 1 test |
| Epilepsy, progressive myoclonic, 11 | 1 test |
| Epilepsy, progressive myoclonic, 1B | 1 test |
| Episodic ataxia type 1 | 1 test |
| Episodic ataxia type 5 | 1 test |
| Episodic ataxia type 6 | 1 test |
| Episodic ataxia, type 9 | 1 test |
| Episodic pain syndrome, familial, 2 | 1 test |
| Epsilon-trimethyllysine hydroxylase deficiency | 1 test |
| Erythrokeratodermia variabilis et progressiva 3 | 1 test |
| Ethylmalonic encephalopathy | 1 test |
| Ewing sarcoma | 1 test |
| Exostoses, multiple, type 1 | 1 test |
| Extraskeletal myxoid chondrosarcoma | 1 test |
| Exudative vitreoretinopathy 2, X-linked | 1 test |
| FADD-related immunodeficiency | 1 test |
| FG syndrome 4 | 1 test |
| FOXG1 disorder | 1 test |
| FRAXE | 1 test |
| Fabry disease | 1 test |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 1 test |
| Facioscapulohumeral muscular dystrophy 2 | 1 test |
| Familial adenomatous polyposis 3 | 1 test |
| Familial amyloid nephropathy with urticaria AND deafness | 1 test |
| Familial cancer of breast | 1 test |
| Familial cold autoinflammatory syndrome 2 | 1 test |
| Familial digital arthropathy-brachydactyly | 1 test |
| Familial dysfibrinogenemia | 1 test |
| Familial encephalopathy with neuroserpin inclusion bodies | 1 test |
| Familial gestational hyperthyroidism | 1 test |
| Familial hypokalemia-hypomagnesemia | 1 test |
| Familial infantile bilateral striatal necrosis | 1 test |
| Familial infantile myasthenia | 1 test |
| Familial isolated deficiency of vitamin E | 1 test |
| Familial meningioma | 1 test |
| Familial pseudohyperkalemia | 1 test |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 1 test |
| Familial temporal lobe epilepsy 5 | 1 test |
| Familial temporal lobe epilepsy 7 | 1 test |
| Fanconi anemia complementation group B | 1 test |
| Fanconi renotubular syndrome 1 | 1 test |
| Fanconi renotubular syndrome 5 | 1 test |
| Farber lipogranulomatosis | 1 test |
| Fatal infantile hypertonic myofibrillar myopathy | 1 test |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 1 test |
| Febrile seizures, familial, 8 | 1 test |
| Feingold syndrome type 1 | 1 test |
| Fetal akinesia deformation sequence 1 | 1 test |
| Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 1 test |
| Fibromatosis, gingival, 1 | 1 test |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 test |
| Finnish type amyloidosis | 1 test |
| Floating-Harbor syndrome | 1 test |
| Focal dermal hypoplasia | 1 test |
| Focal segmental glomerulosclerosis 2 | 1 test |
| Focal segmental glomerulosclerosis 6 | 1 test |
| Focal segmental glomerulosclerosis and neurodevelopmental syndrome | 1 test |
| Foveal hypoplasia 1 | 1 test |
| Fowler syndrome | 1 test |
| Fraser syndrome 3 | 1 test |
| Freeman-Sheldon syndrome | 1 test |
| Friedreich ataxia 1 | 1 test |
| Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | 1 test |
| Frontonasal dysplasia with alopecia and genital anomaly | 1 test |
| Frontorhiny | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 1 test |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | 1 test |
| Fucosidosis | 1 test |
| GM1 gangliosidosis type 3 | 1 test |
| GM3 synthase deficiency | 1 test |
| GNPTG-mucolipidosis | 1 test |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 test |
| GTP cyclohydrolase I deficiency with hyperphenylalaninemia | 1 test |
| Gabriele de Vries syndrome | 1 test |
| Galactosylceramide beta-galactosidase deficiency | 1 test |
| Galloway-Mowat syndrome 1 | 1 test |
| Galloway-Mowat syndrome 3 | 1 test |
| Galloway-Mowat syndrome 8 | 1 test |
| Gamma-aminobutyric acid transaminase deficiency | 1 test |
| Gastrointestinal stromal tumor | 1 test |
| Gaucher disease type I | 1 test |
| Geleophysic dysplasia 1 | 1 test |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 test |
| Genitopatellar syndrome | 1 test |
| Giant axonal neuropathy 1 | 1 test |
| Gillespie syndrome | 1 test |
| Gillessen-Kaesbach-Nishimura syndrome | 1 test |
| Global developmental delay with or without impaired intellectual development | 1 test |
| Glucocorticoid deficiency 4 | 1 test |
| Glucocorticoid deficiency with achalasia | 1 test |
| Glutamate pyruvate transaminase 2 deficiency | 1 test |
| Glutaric aciduria, type 1 | 1 test |
| Glutaryl-CoA oxidase deficiency | 1 test |
| Glutathione synthetase deficiency with 5-oxoprolinuria | 1 test |
| Glutathione synthetase deficiency without 5-oxoprolinuria | 1 test |
| Gluthathione peroxidase deficiency | 1 test |
| Glycine encephalopathy | 1 test |
| Glycogen storage disease IXd | 1 test |
| Glycogen storage disease XV | 1 test |
| Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 1 test |
| Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 1 test |
| Glycogen storage disease due to muscle beta-enolase deficiency | 1 test |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 test |
| Glycogen storage disease type III | 1 test |
| Glycogen storage disease type X | 1 test |
| Glycogen storage disease, type II | 1 test |
| Glycogen storage disease, type V | 1 test |
| Glycogen storage disease, type VII | 1 test |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 1 test |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 1 test |
| Glycosylphosphatidylinositol biosynthesis defect 17 | 1 test |
| Glycosylphosphatidylinositol biosynthesis defect 18 | 1 test |
| Glycosylphosphatidylinositol biosynthesis defect 21 | 1 test |
| Goldberg-Shprintzen syndrome | 1 test |
| Gorlin syndrome | 1 test |
| Greig cephalopolysyndactyly syndrome | 1 test |
| Griscelli syndrome type 1 | 1 test |
| Griscelli syndrome type 2 | 1 test |
| Griscelli syndrome type 3 | 1 test |
| Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | 1 test |
| Growth delay due to insulin-like growth factor I resistance | 1 test |
| Growth delay due to insulin-like growth factor type 1 deficiency | 1 test |
| HNSHA due to aldolase A deficiency | 1 test |
| HSD10 mitochondrial disease | 1 test |
| Hajdu-Cheney syndrome | 1 test |
| Harderoporphyria | 1 test |
| Hearing loss, autosomal dominant 71 | 1 test |
| Hearing loss, autosomal dominant 75 | 1 test |
| Heart-hand syndrome, Slovenian type | 1 test |
| Heimler syndrome 1 | 1 test |
| Heimler syndrome 2 | 1 test |
| Heinz body anemia | 1 test |
| Hemochromatosis type 2B | 1 test |
| Hemochromatosis type 3 | 1 test |
| Hemolytic anemia due to glucophosphate isomerase deficiency | 1 test |
| Hemolytic anemia due to glutathione reductase deficiency | 1 test |
| Hepatitis C virus, susceptibility to | 1 test |
| Hepatocellular carcinoma | 1 test |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 1 test |
| Hereditary cerebral amyloid angiopathy, Icelandic type | 1 test |
| Hereditary coproporphyria | 1 test |
| Hereditary fructosuria | 1 test |
| Hereditary insensitivity to pain with anhidrosis | 1 test |
| Hereditary leiomyomatosis and renal cell cancer | 1 test |
| Hereditary myopathy with lactic acidosis due to ISCU deficiency | 1 test |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 test |
| Hereditary spastic paraplegia 10 | 1 test |
| Hereditary spastic paraplegia 12 | 1 test |
| Hereditary spastic paraplegia 13 | 1 test |
| Hereditary spastic paraplegia 15 | 1 test |
| Hereditary spastic paraplegia 18 | 1 test |
| Hereditary spastic paraplegia 2 | 1 test |
| Hereditary spastic paraplegia 26 | 1 test |
| Hereditary spastic paraplegia 28 | 1 test |
| Hereditary spastic paraplegia 30 | 1 test |
| Hereditary spastic paraplegia 33 | 1 test |
| Hereditary spastic paraplegia 35 | 1 test |
| Hereditary spastic paraplegia 4 | 1 test |
| Hereditary spastic paraplegia 42 | 1 test |
| Hereditary spastic paraplegia 43 | 1 test |
| Hereditary spastic paraplegia 45 | 1 test |
| Hereditary spastic paraplegia 46 | 1 test |
| Hereditary spastic paraplegia 47 | 1 test |
| Hereditary spastic paraplegia 48 | 1 test |
| Hereditary spastic paraplegia 49 | 1 test |
| Hereditary spastic paraplegia 50 | 1 test |
| Hereditary spastic paraplegia 51 | 1 test |
| Hereditary spastic paraplegia 52 | 1 test |
| Hereditary spastic paraplegia 53 | 1 test |
| Hereditary spastic paraplegia 54 | 1 test |
| Hereditary spastic paraplegia 55 | 1 test |
| Hereditary spastic paraplegia 56 | 1 test |
| Hereditary spastic paraplegia 57 | 1 test |
| Hereditary spastic paraplegia 6 | 1 test |
| Hereditary spastic paraplegia 61 | 1 test |
| Hereditary spastic paraplegia 62 | 1 test |
| Hereditary spastic paraplegia 64 | 1 test |
| Hereditary spastic paraplegia 7 | 1 test |
| Hereditary spastic paraplegia 72 | 1 test |
| Hereditary spastic paraplegia 73 | 1 test |
| Hereditary spastic paraplegia 75 | 1 test |
| Hereditary spastic paraplegia 77 | 1 test |
| Hereditary spastic paraplegia 9A | 1 test |
| Hermansky-Pudlak syndrome 1 | 1 test |
| Hermansky-Pudlak syndrome 2 | 1 test |
| Hermansky-Pudlak syndrome 4 | 1 test |
| Hermansky-Pudlak syndrome 5 | 1 test |
| Hermansky-Pudlak syndrome 6 | 1 test |
| Hermansky-Pudlak syndrome 7 | 1 test |
| Hermansky-Pudlak syndrome 8 | 1 test |
| Hermansky-Pudlak syndrome 9 | 1 test |
| Heterotaxy, visceral, 1, X-linked | 1 test |
| Heyn-Sproul-Jackson syndrome | 1 test |
| Hiatt-Neu-Cooper neurodevelopmental syndrome | 1 test |
| Hirschsprung disease, susceptibility to, 3 | 1 test |
| Holocarboxylase synthetase deficiency | 1 test |
| Holoprosencephaly 11 | 1 test |
| Holoprosencephaly 3 | 1 test |
| Holoprosencephaly 4 | 1 test |
| Holoprosencephaly 5 | 1 test |
| Houge-Janssens syndrome 1 | 1 test |
| Houge-Janssens syndrome 2 | 1 test |
| Houge-Janssens syndrome 3 | 1 test |
| Huntington disease-like 1 | 1 test |
| Huppke-Brendel syndrome | 1 test |
| Hurler syndrome | 1 test |
| Hyaline fibromatosis syndrome | 1 test |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 1 test |
| Hydrolethalus syndrome 2 | 1 test |
| Hyper-IgM syndrome type 5 | 1 test |
| Hyperammonemia, type III | 1 test |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 1 test |
| Hypercalcemia, infantile, 1 | 1 test |
| Hypercholesterolemia, familial, 1 | 1 test |
| Hyperekplexia 1 | 1 test |
| Hyperekplexia 2 | 1 test |
| Hyperekplexia 3 | 1 test |
| Hyperekplexia 4 | 1 test |
| Hyperinsulinemic hypoglycemia, familial, 4 | 1 test |
| Hyperinsulinism-hyperammonemia syndrome | 1 test |
| Hyperlysinemia | 1 test |
| Hypermanganesemia with dystonia 2 | 1 test |
| Hypermanganesemia with dystonia, polycythemia, and cirrhosis | 1 test |
| Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | 1 test |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 1 test |
| Hyperostosis cranialis interna | 1 test |
| Hyperphenylalaninemia due to DNAJC12 deficiency | 1 test |
| Hyperphosphatasia with intellectual disability syndrome 1 | 1 test |
| Hyperphosphatasia with intellectual disability syndrome 2 | 1 test |
| Hyperphosphatasia with intellectual disability syndrome 3 | 1 test |
| Hyperphosphatasia with intellectual disability syndrome 5 | 1 test |
| Hyperprolinemia type 2 | 1 test |
| Hypertrophic cardiomyopathy 10 | 1 test |
| Hypertrophic cardiomyopathy 12 | 1 test |
| Hypertrophic cardiomyopathy 18 | 1 test |
| Hypertrophic cardiomyopathy 25 | 1 test |
| Hypertrophic cardiomyopathy 26 | 1 test |
| Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | 1 test |
| Hypogonadotropic hypogonadism 22 with or without anosmia | 1 test |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 test |
| Hypokalemic periodic paralysis, type 1 | 1 test |
| Hypokalemic periodic paralysis, type 2 | 1 test |
| Hypomagnesemia, seizures, and intellectual disability 1 | 1 test |
| Hypomyelination and Congenital Cataract | 1 test |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 1 test |
| Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 1 test |
| Hypospadias 2, X-linked | 1 test |
| Hypotonia with lactic acidemia and hyperammonemia | 1 test |
| Hypotonia, ataxia, and delayed development syndrome | 1 test |
| Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | 1 test |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 1 test |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 1 test |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 test |
| IFAP syndrome 1, with or without BRESHECK syndrome | 1 test |
| Ichthyosis prematurity syndrome | 1 test |
| Idiopathic basal ganglia calcification 1 | 1 test |
| Immunodeficiency 47 | 1 test |
| Immunodeficiency 75 | 1 test |
| Immunodeficiency 95 | 1 test |
| Immunodeficiency, developmental delay, and hypohomocysteinemia | 1 test |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 1 test |
| Inborn glycerol kinase deficiency | 1 test |
| Inclusion body myopathy and brain white matter abnormalities | 1 test |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 1 test |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | 1 test |
| Infantile cerebellar-retinal degeneration | 1 test |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 1 test |
| Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | 1 test |
| Infantile liver failure syndrome 2 | 1 test |
| Infantile nephronophthisis | 1 test |
| Infantile neuroaxonal dystrophy | 1 test |
| Infantile onset spinocerebellar ataxia | 1 test |
| Infantile-onset X-linked spinal muscular atrophy | 1 test |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 1 test |
| Inosine triphosphatase deficiency | 1 test |
| Intellectual developmental disorder 59 | 1 test |
| Intellectual developmental disorder 60 with seizures | 1 test |
| Intellectual developmental disorder 61 | 1 test |
| Intellectual developmental disorder 62 | 1 test |
| Intellectual developmental disorder with autism and macrocephaly | 1 test |
| Intellectual developmental disorder with autism and speech delay | 1 test |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 test |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 1 test |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 1 test |
| Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 1 test |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 test |
| Intellectual developmental disorder, autosomal dominant 64 | 1 test |
| Intellectual developmental disorder, autosomal dominant 65 | 1 test |
| Intellectual developmental disorder, autosomal dominant 67 | 1 test |
| Intellectual developmental disorder, autosomal dominant 68 | 1 test |
| Intellectual developmental disorder, autosomal recessive 67 | 1 test |
| Intellectual developmental disorder, autosomal recessive 76 | 1 test |
| Intellectual disability, FRA12A type | 1 test |
| Intellectual disability, X-linked 1 | 1 test |
| Intellectual disability, X-linked 102 | 1 test |
| Intellectual disability, X-linked 104 | 1 test |
| Intellectual disability, X-linked 19 | 1 test |
| Intellectual disability, X-linked 21 | 1 test |
| Intellectual disability, X-linked 30 | 1 test |
| Intellectual disability, X-linked 41 | 1 test |
| Intellectual disability, X-linked 49 | 1 test |
| Intellectual disability, X-linked 58 | 1 test |
| Intellectual disability, X-linked 63 | 1 test |
| Intellectual disability, X-linked 9 | 1 test |
| Intellectual disability, X-linked 93 | 1 test |
| Intellectual disability, X-linked 96 | 1 test |
| Intellectual disability, X-linked 97 | 1 test |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 test |
| Intellectual disability, X-linked syndromic, Turner type | 1 test |
| Intellectual disability, X-linked, syndromic, 35 | 1 test |
| Intellectual disability, X-linked, syndromic, Bain type | 1 test |
| Intellectual disability, X-linked, syndromic, Houge type | 1 test |
| Intellectual disability, X-linked, with panhypopituitarism | 1 test |
| Intellectual disability, anterior maxillary protrusion, and strabismus | 1 test |
| Intellectual disability, autosomal dominant 1 | 1 test |
| Intellectual disability, autosomal dominant 11 | 1 test |
| Intellectual disability, autosomal dominant 13 | 1 test |
| Intellectual disability, autosomal dominant 14 | 1 test |
| Intellectual disability, autosomal dominant 22 | 1 test |
| Intellectual disability, autosomal dominant 24 | 1 test |
| Intellectual disability, autosomal dominant 29 | 1 test |
| Intellectual disability, autosomal dominant 3 | 1 test |
| Intellectual disability, autosomal dominant 30 | 1 test |
| Intellectual disability, autosomal dominant 33 | 1 test |
| Intellectual disability, autosomal dominant 39 | 1 test |
| Intellectual disability, autosomal dominant 40 | 1 test |
| Intellectual disability, autosomal dominant 41 | 1 test |
| Intellectual disability, autosomal dominant 42 | 1 test |
| Intellectual disability, autosomal dominant 43 | 1 test |
| Intellectual disability, autosomal dominant 45 | 1 test |
| Intellectual disability, autosomal dominant 46 | 1 test |
| Intellectual disability, autosomal dominant 47 | 1 test |
| Intellectual disability, autosomal dominant 48 | 1 test |
| Intellectual disability, autosomal dominant 5 | 1 test |
| Intellectual disability, autosomal dominant 50 | 1 test |
| Intellectual disability, autosomal dominant 51 | 1 test |
| Intellectual disability, autosomal dominant 52 | 1 test |
| Intellectual disability, autosomal dominant 53 | 1 test |
| Intellectual disability, autosomal dominant 54 | 1 test |
| Intellectual disability, autosomal dominant 55, with seizures | 1 test |
| Intellectual disability, autosomal dominant 56 | 1 test |
| Intellectual disability, autosomal dominant 57 | 1 test |
| Intellectual disability, autosomal dominant 58 | 1 test |
| Intellectual disability, autosomal recessive 1 | 1 test |
| Intellectual disability, autosomal recessive 12 | 1 test |
| Intellectual disability, autosomal recessive 13 | 1 test |
| Intellectual disability, autosomal recessive 14 | 1 test |
| Intellectual disability, autosomal recessive 18 | 1 test |
| Intellectual disability, autosomal recessive 2 | 1 test |
| Intellectual disability, autosomal recessive 27 | 1 test |
| Intellectual disability, autosomal recessive 3 | 1 test |
| Intellectual disability, autosomal recessive 34 | 1 test |
| Intellectual disability, autosomal recessive 42 | 1 test |
| Intellectual disability, autosomal recessive 43 | 1 test |
| Intellectual disability, autosomal recessive 44 | 1 test |
| Intellectual disability, autosomal recessive 46 | 1 test |
| Intellectual disability, autosomal recessive 5 | 1 test |
| Intellectual disability, autosomal recessive 50 | 1 test |
| Intellectual disability, autosomal recessive 51 | 1 test |
| Intellectual disability, autosomal recessive 52 | 1 test |
| Intellectual disability, autosomal recessive 53 | 1 test |
| Intellectual disability, autosomal recessive 54 | 1 test |
| Intellectual disability, autosomal recessive 56 | 1 test |
| Intellectual disability, autosomal recessive 57 | 1 test |
| Intellectual disability, autosomal recessive 58 | 1 test |
| Intellectual disability, autosomal recessive 59 | 1 test |
| Intellectual disability, autosomal recessive 6 | 1 test |
| Intellectual disability, autosomal recessive 60 | 1 test |
| Intellectual disability, autosomal recessive 61 | 1 test |
| Intellectual disability, autosomal recessive 65 | 1 test |
| Intellectual disability, autosomal recessive 66 | 1 test |
| Intellectual disability, autosomal recessive 7 | 1 test |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 1 test |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 test |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 1 test |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 test |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 test |
| Intellectual disability-strabismus syndrome | 1 test |
| Intestinal hypomagnesemia 1 | 1 test |
| Isolated thyroid-stimulating hormone deficiency | 1 test |
| Isovaleryl-CoA dehydrogenase deficiency | 1 test |
| Jaberi-Elahi syndrome | 1 test |
| Jackson-Weiss syndrome | 1 test |
| Jawad syndrome | 1 test |
| Johanson-Blizzard syndrome | 1 test |
| Joubert syndrome 1 | 1 test |
| Joubert syndrome 13 | 1 test |
| Joubert syndrome 14 | 1 test |
| Joubert syndrome 15 | 1 test |
| Joubert syndrome 16 | 1 test |
| Joubert syndrome 17 | 1 test |
| Joubert syndrome 2 | 1 test |
| Joubert syndrome 21 | 1 test |
| Joubert syndrome 22 | 1 test |
| Joubert syndrome 24 | 1 test |
| Joubert syndrome 27 | 1 test |
| Joubert syndrome 28 | 1 test |
| Joubert syndrome 3 | 1 test |
| Joubert syndrome 5 | 1 test |
| Joubert syndrome 8 | 1 test |
| Juvenile myelomonocytic leukemia | 1 test |
| Juvenile onset Parkinson disease 19A | 1 test |
| Juvenile polyposis syndrome | 1 test |
| Juvenile primary lateral sclerosis | 1 test |
| KBG syndrome | 1 test |
| Kabuki syndrome 1 | 1 test |
| Kabuki syndrome 2 | 1 test |
| Kahrizi syndrome | 1 test |
| Karyomegalic interstitial nephritis | 1 test |
| Keipert syndrome | 1 test |
| Keratosis follicularis | 1 test |
| Ketoacidosis due to monocarboxylate transporter-1 deficiency | 1 test |
| Kleefstra syndrome 1 | 1 test |
| Kleefstra syndrome 2 | 1 test |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 1 test |
| Koolen-de Vries syndrome | 1 test |
| Kostmann syndrome | 1 test |
| Kufor-Rakeb syndrome | 1 test |
| L-2-hydroxyglutaric aciduria | 1 test |
| L-ferritin deficiency | 1 test |
| LEOPARD syndrome 3 | 1 test |
| Lafora disease | 1 test |
| Lamb-Shaffer syndrome | 1 test |
| Landau-Kleffner syndrome | 1 test |
| Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia | 1 test |
| Lateral meningocele syndrome | 1 test |
| Lathosterolosis | 1 test |
| Laurence-Moon syndrome | 1 test |
| Leber congenital amaurosis 10 | 1 test |
| Left ventricular noncompaction 10 | 1 test |
| Left ventricular noncompaction 7 | 1 test |
| Lesch-Nyhan syndrome | 1 test |
| Lethal Kniest-like syndrome | 1 test |
| Lethal congenital contracture syndrome 1 | 1 test |
| Lethal congenital contracture syndrome 11 | 1 test |
| Lethal congenital contracture syndrome 3 | 1 test |
| Lethal congenital contracture syndrome 9 | 1 test |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 1 test |
| Lethal multiple pterygium syndrome | 1 test |
| Lethal polymalformative syndrome, Boissel type | 1 test |
| Leukocyte adhesion deficiency type II | 1 test |
| Leukodystrophy and acquired microcephaly with or without dystonia; | 1 test |
| Leukodystrophy, hypomyelinating, 10 | 1 test |
| Leukodystrophy, hypomyelinating, 13 | 1 test |
| Leukodystrophy, hypomyelinating, 14 | 1 test |
| Leukodystrophy, hypomyelinating, 15 | 1 test |
| Leukodystrophy, hypomyelinating, 16 | 1 test |
| Leukodystrophy, hypomyelinating, 17 | 1 test |
| Leukodystrophy, hypomyelinating, 18 | 1 test |
| Leukodystrophy, hypomyelinating, 3 | 1 test |
| Leukodystrophy, hypomyelinating, 4 | 1 test |
| Leukodystrophy, hypomyelinating, 6 | 1 test |
| Leukodystrophy, hypomyelinating, 9 | 1 test |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 test |
| Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 1 test |
| Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | 1 test |
| Leukoencephalopathy, diffuse hereditary, with spheroids 1 | 1 test |
| Leukoencephalopathy, hereditary diffuse, with spheroids 2 | 1 test |
| Leukoencephalopathy, progressive, with ovarian failure | 1 test |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 1 test |
| Levy-Hollister syndrome | 1 test |
| Lewy body dementia | 1 test |
| Li-Ghorbani-Weisz-Hubshman syndrome | 1 test |
| Limb-girdle muscular dystrophy due to POMK deficiency | 1 test |
| Linear skin defects with multiple congenital anomalies 1 | 1 test |
| Linear skin defects with multiple congenital anomalies 2 | 1 test |
| Lipoic acid synthetase deficiency | 1 test |
| Lipoyl transferase 1 deficiency | 1 test |
| Lissencephaly 6 with microcephaly | 1 test |
| Lissencephaly 8 | 1 test |
| Lissencephaly 9 with complex brainstem malformation | 1 test |
| Lissencephaly due to LIS1 mutation | 1 test |
| Lissencephaly due to TUBA1A mutation | 1 test |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 test |
| Long QT syndrome 12 | 1 test |
| Lower motor neuron syndrome with late-adult onset | 1 test |
| Lung cancer | 1 test |
| Lung disease, immunodeficiency, and chromosome breakage syndrome; | 1 test |
| Luscan-Lumish syndrome | 1 test |
| Lymphatic malformation 3 | 1 test |
| Lysinuric protein intolerance | 1 test |
| Lysosomal acid lipase deficiency | 1 test |
| MEDNIK syndrome | 1 test |
| MEGF10-related myopathy | 1 test |
| MEHMO syndrome | 1 test |
| MGAT2-congenital disorder of glycosylation | 1 test |
| MOGS-congenital disorder of glycosylation | 1 test |
| MPDU1-congenital disorder of glycosylation | 1 test |
| MPI-congenital disorder of glycosylation | 1 test |
| MYH7-related skeletal myopathy | 1 test |
| MYPN-related myopathy | 1 test |
| Macrocephaly, acquired, with impaired intellectual development | 1 test |
| Macrocephaly-developmental delay syndrome | 1 test |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 test |
| Macular degeneration, early-onset | 1 test |
| Macular dystrophy with central cone involvement | 1 test |
| Malan overgrowth syndrome | 1 test |
| Mandibulofacial dysostosis-microcephaly syndrome | 1 test |
| Maple syrup urine disease | 1 test |
| Marinesco-Sjögren syndrome | 1 test |
| Marshall-Smith syndrome | 1 test |
| Martsolf syndrome 1 | 1 test |
| Mast syndrome | 1 test |
| Maturity-onset diabetes of the young type 2 | 1 test |
| Maturity-onset diabetes of the young type 8 | 1 test |
| McCune-Albright syndrome | 1 test |
| Meckel syndrome, type 1 | 1 test |
| Meckel syndrome, type 10 | 1 test |
| Meckel syndrome, type 11 | 1 test |
| Meckel syndrome, type 4 | 1 test |
| Meckel syndrome, type 5 | 1 test |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 test |
| Medulloblastoma | 1 test |
| Megaconial type congenital muscular dystrophy | 1 test |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 1 test |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | 1 test |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 1 test |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 test |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 test |
| Meier-Gorlin syndrome 1 | 1 test |
| Melorheostosis | 1 test |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 1 test |
| Menke-Hennekam syndrome 2 | 1 test |
| Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | 1 test |
| Metachromatic leukodystrophy | 1 test |
| Methemoglobinemia type 4 | 1 test |
| Methylcobalamin deficiency type cblG | 1 test |
| Methylmalonate semialdehyde dehydrogenase deficiency | 1 test |
| Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | 1 test |
| Methylmalonic acidemia due to transcobalamin receptor defect | 1 test |
| Methylmalonic acidemia with homocystinuria, type cblJ | 1 test |
| Methylmalonic acidemia with homocystinuria, type cblX | 1 test |
| Methylmalonic aciduria and homocystinuria type cblD | 1 test |
| Methylmalonic aciduria and homocystinuria type cblF | 1 test |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 1 test |
| Methylmalonic aciduria, cblA type | 1 test |
| Methylmalonic aciduria, cblB type | 1 test |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 1 test |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 test |
| Microcephalic primordial dwarfism due to RTTN deficiency | 1 test |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 1 test |
| Microcephaly 1, primary, autosomal recessive | 1 test |
| Microcephaly 14, primary, autosomal recessive | 1 test |
| Microcephaly 15, primary, autosomal recessive | 1 test |
| Microcephaly 16, primary, autosomal recessive | 1 test |
| Microcephaly 17, primary, autosomal recessive | 1 test |
| Microcephaly 18, primary, autosomal dominant | 1 test |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 1 test |
| Microcephaly 20, primary, autosomal recessive | 1 test |
| Microcephaly 22, primary, autosomal recessive | 1 test |
| Microcephaly 26, primary, autosomal dominant | 1 test |
| Microcephaly 3, primary, autosomal recessive | 1 test |
| Microcephaly 4, primary, autosomal recessive | 1 test |
| Microcephaly 5, primary, autosomal recessive | 1 test |
| Microcephaly 6, primary, autosomal recessive | 1 test |
| Microcephaly 7, primary, autosomal recessive | 1 test |
| Microcephaly 8, primary, autosomal recessive | 1 test |
| Microcephaly and chorioretinopathy 1 | 1 test |
| Microcephaly and chorioretinopathy 2 | 1 test |
| Microcephaly and chorioretinopathy 3 | 1 test |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 test |
| Microcephaly, epilepsy, and diabetes syndrome 1 | 1 test |
| Microcephaly, short stature, and impaired glucose metabolism 1 | 1 test |
| Microcephaly-capillary malformation syndrome | 1 test |
| Microcephaly-congenital cataract-psoriasiform dermatitis syndrome | 1 test |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 1 test |
| Microcephaly-thin corpus callosum-intellectual disability syndrome | 1 test |
| Microphthalmia, syndromic 1 | 1 test |
| Microphthalmia, syndromic 9 | 1 test |
| Microvascular complications of diabetes, susceptibility to, 5 | 1 test |
| Microvascular complications of diabetes, susceptibility to, 6 | 1 test |
| Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 1 test |
| Miller Dieker syndrome | 1 test |
| Miller syndrome | 1 test |
| Mitchell syndrome | 1 test |
| Mitochondrial DNA deletion syndrome with progressive myopathy | 1 test |
| Mitochondrial DNA depletion syndrome 1 | 1 test |
| Mitochondrial DNA depletion syndrome 11 | 1 test |
| Mitochondrial DNA depletion syndrome 13 | 1 test |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 1 test |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 1 test |
| Mitochondrial DNA depletion syndrome 9 | 1 test |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 1 test |
| Mitochondrial complex I deficiency, nuclear type 1 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 10 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 11 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 12 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 13 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 14 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 15 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 16 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 18 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 19 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 2 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 21 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 22 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 23 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 24 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 25 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 26 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 27 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 29 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 3 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 30 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 31 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 32 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 33 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 4 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 5 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 6 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 7 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 8 | 1 test |
| Mitochondrial complex I deficiency, nuclear type 9 | 1 test |
| Mitochondrial complex II deficiency, nuclear type 1 | 1 test |
| Mitochondrial complex III deficiency nuclear type 1 | 1 test |
| Mitochondrial complex III deficiency nuclear type 2 | 1 test |
| Mitochondrial complex III deficiency nuclear type 3 | 1 test |
| Mitochondrial complex III deficiency nuclear type 4 | 1 test |
| Mitochondrial complex III deficiency nuclear type 5 | 1 test |
| Mitochondrial complex III deficiency nuclear type 6 | 1 test |
| Mitochondrial complex III deficiency nuclear type 7 | 1 test |
| Mitochondrial complex III deficiency nuclear type 8 | 1 test |
| Mitochondrial complex IV deficiency, nuclear type 1 | 1 test |
| Mitochondrial complex IV deficiency, nuclear type 10 | 1 test |
| Mitochondrial complex IV deficiency, nuclear type 11 | 1 test |
| Mitochondrial complex IV deficiency, nuclear type 12 | 1 test |
| Mitochondrial complex IV deficiency, nuclear type 17 | 1 test |
| Mitochondrial complex IV deficiency, nuclear type 3 | 1 test |
| Mitochondrial complex IV deficiency, nuclear type 4 | 1 test |
| Mitochondrial complex IV deficiency, nuclear type 7 | 1 test |
| Mitochondrial complex IV deficiency, nuclear type 8 | 1 test |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 1 test |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | 1 test |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 | 1 test |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 1 test |
| Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | 1 test |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 1 test |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 1 test |
| Mitochondrial pyruvate carrier deficiency | 1 test |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 1 test |
| Mitochondrial trifunctional protein deficiency | 1 test |
| Miyoshi muscular dystrophy 1 | 1 test |
| Miyoshi muscular dystrophy 3 | 1 test |
| Mowat-Wilson syndrome | 1 test |
| Mucolipidosis type II | 1 test |
| Mucolipidosis type IV | 1 test |
| Mucopolysaccharidosis type 6 | 1 test |
| Mucopolysaccharidosis type 7 | 1 test |
| Mucopolysaccharidosis, MPS-II | 1 test |
| Mucopolysaccharidosis, MPS-III-A | 1 test |
| Mucopolysaccharidosis, MPS-III-B | 1 test |
| Mucopolysaccharidosis, MPS-III-D | 1 test |
| Mucopolysaccharidosis, MPS-IV-A | 1 test |
| Multiple acyl-CoA dehydrogenase deficiency | 1 test |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 test |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 test |
| Multiple epiphyseal dysplasia, Al-Gazali type | 1 test |
| Multiple mitochondrial dysfunctions syndrome 1 | 1 test |
| Multiple mitochondrial dysfunctions syndrome 2 | 1 test |
| Multiple mitochondrial dysfunctions syndrome 4 | 1 test |
| Multiple mitochondrial dysfunctions syndrome 5 | 1 test |
| Multiple mitochondrial dysfunctions syndrome 6 | 1 test |
| Multiple sclerosis, susceptibility to | 1 test |
| Multiple sulfatase deficiency | 1 test |
| Multiple system atrophy 1, susceptibility to | 1 test |
| Multisystemic smooth muscle dysfunction syndrome | 1 test |
| Mungan syndrome | 1 test |
| Muscle AMP deaminase deficiency | 1 test |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 1 test |
| Myasthenic syndrome, congenital, 22 | 1 test |
| Myasthenic syndrome, congenital, 23, presynaptic | 1 test |
| Myasthenic syndrome, congenital, 24, presynaptic | 1 test |
| Myelodysplastic syndrome | 1 test |
| Myelodysplastic syndrome associated with isolated del(5q) | 1 test |
| Myoclonic dystonia 11 | 1 test |
| Myoclonic dystonia 26 | 1 test |
| Myoclonic epilepsy, juvenile, susceptibility to, 1 | 1 test |
| Myofibrillar myopathy 3 | 1 test |
| Myofibrillar myopathy 6 | 1 test |
| Myofibrillar myopathy 7 | 1 test |
| Myofibrillar myopathy 8 | 1 test |
| Myoglobinuria, acute recurrent, autosomal recessive | 1 test |
| Myopathy due to calsequestrin and SERCA1 protein overload | 1 test |
| Myopathy with abnormal lipid metabolism | 1 test |
| Myopathy, centronuclear, 2 | 1 test |
| Myopathy, centronuclear, 5 | 1 test |
| Myopathy, congenital proximal, with minicore lesions | 1 test |
| Myopathy, congenital, with respiratory insufficiency and bone fractures | 1 test |
| Myopathy, congenital, with tremor | 1 test |
| Myopathy, epilepsy, and progressive cerebral atrophy | 1 test |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | 1 test |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | 1 test |
| Myopathy, myofibrillar, 9, with early respiratory failure | 1 test |
| Myopathy, proximal, and ophthalmoplegia | 1 test |
| Myopathy, reducing body, X-linked, childhood-onset | 1 test |
| Myopathy, reducing body, X-linked, early-onset, severe | 1 test |
| Myopia 25, autosomal dominant | 1 test |
| Myosclerosis | 1 test |
| Myotonic dystrophy type 2 | 1 test |
| NAD(P)HX dehydratase deficiency | 1 test |
| NDE1-related microhydranencephaly | 1 test |
| Nail-patella-like renal disease | 1 test |
| Nance-Horan syndrome | 1 test |
| Nanophthalmos 2 | 1 test |
| Nemaline myopathy 10 | 1 test |
| Nemaline myopathy 2 | 1 test |
| Nemaline myopathy 5 | 1 test |
| Nemaline myopathy 6 | 1 test |
| Nemaline myopathy 7 | 1 test |
| Nemaline myopathy 8 | 1 test |
| Nemaline myopathy 9 | 1 test |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 1 test |
| Neonatal pseudo-hydrocephalic progeroid syndrome | 1 test |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 test |
| Nephronophthisis 11 | 1 test |
| Nephronophthisis 12 | 1 test |
| Nephronophthisis 14 | 1 test |
| Nephronophthisis 15 | 1 test |
| Nephronophthisis-like nephropathy 1 | 1 test |
| Nephropathic cystinosis | 1 test |
| Nephrotic syndrome 15 | 1 test |
| Nephrotic syndrome, type 9 | 1 test |
| Neu-Laxova syndrome 1 | 1 test |
| Neural tube defect | 1 test |
| Neural tube defects, folate-sensitive | 1 test |
| Neuroblastoma, susceptibility to, 1 | 1 test |
| Neuroblastoma, susceptibility to, 2 | 1 test |
| Neurodegeneration with ataxia and late-onset optic atrophy | 1 test |
| Neurodegeneration with brain iron accumulation 5 | 1 test |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 test |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | 1 test |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 1 test |
| Neurodevelopmental disorder with absent language and variable seizures | 1 test |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 1 test |
| Neurodevelopmental disorder with central hypotonia and dysmorphic facies | 1 test |
| Neurodevelopmental disorder with dysmorphic facies and variable seizures | 1 test |
| Neurodevelopmental disorder with epilepsy and hemochromatosis | 1 test |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 1 test |
| Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 1 test |
| Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | 1 test |
| Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | 1 test |
| Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | 1 test |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 1 test |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 1 test |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 1 test |
| Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | 1 test |
| Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | 1 test |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 1 test |
| Neurodevelopmental disorder with involuntary movements | 1 test |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 test |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 1 test |
| Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | 1 test |
| Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | 1 test |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 1 test |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 test |
| Neurodevelopmental disorder with or without autism or seizures | 1 test |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 1 test |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 1 test |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 1 test |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 test |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 1 test |
| Neurodevelopmental disorder with seizures and speech and walking impairment | 1 test |
| Neurodevelopmental disorder with severe motor impairment and absent language | 1 test |
| Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | 1 test |
| Neurodevelopmental disorder with visual defects and brain anomalies | 1 test |
| Neurofibromatosis-Noonan syndrome | 1 test |
| Neurogenic scapuloperoneal syndrome, Kaeser type | 1 test |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | 1 test |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | 1 test |
| Neuronal ceroid lipofuscinosis 1 | 1 test |
| Neuronal ceroid lipofuscinosis 10 | 1 test |
| Neuronal ceroid lipofuscinosis 13 | 1 test |
| Neuronal ceroid lipofuscinosis 3 | 1 test |
| Neuronal ceroid lipofuscinosis 5 | 1 test |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 1 test |
| Neuronopathy, distal hereditary motor, autosomal recessive 5 | 1 test |
| Neuronopathy, distal hereditary motor, type 2C | 1 test |
| Neuronopathy, distal hereditary motor, type 2D | 1 test |
| Neuronopathy, distal hereditary motor, type 5A | 1 test |
| Neuronopathy, distal hereditary motor, type 5B | 1 test |
| Neuronopathy, distal hereditary motor, type 5C | 1 test |
| Neurooculocardiogenitourinary syndrome | 1 test |
| Neuropathy, congenital hypomyelinating, 3 | 1 test |
| Neuropathy, hereditary motor and sensory, type 6B | 1 test |
| Neuropathy, hereditary sensory and autonomic, type 1A | 1 test |
| Neuropathy, hereditary sensory and autonomic, type 1C | 1 test |
| Neuropathy, hereditary sensory and autonomic, type 2B | 1 test |
| Neuropathy, hereditary sensory, type 1D | 1 test |
| Neutral 1 amino acid transport defect | 1 test |
| Neutral lipid storage myopathy | 1 test |
| Neutropenia, severe congenital, 9, autosomal dominant | 1 test |
| Nicolaides-Baraitser syndrome | 1 test |
| Niemann-Pick disease, type B | 1 test |
| Niemann-Pick disease, type C1 | 1 test |
| Niemann-Pick disease, type C2 | 1 test |
| Nijmegen breakage syndrome-like disorder | 1 test |
| Non-acquired combined pituitary hormone deficiency with spine abnormalities | 1 test |
| Non-syndromic X-linked intellectual disability | 1 test |
| Nonpersistence of intestinal lactase | 1 test |
| Noonan syndrome 1 | 1 test |
| Noonan syndrome 10 | 1 test |
| Noonan syndrome 3 | 1 test |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 test |
| Nystagmus 1, congenital, X-linked | 1 test |
| O'Donnell-Luria-Rodan syndrome | 1 test |
| OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO | 1 test |
| Obesity due to congenital leptin deficiency | 1 test |
| Occipital pachygyria and polymicrogyria | 1 test |
| Oculocerebrofacial syndrome, Kaufman type | 1 test |
| Oculocutaneous albinism type 1B | 1 test |
| Oculofaciocardiodental syndrome | 1 test |
| Ogden syndrome | 1 test |
| Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | 1 test |
| Optic atrophy 12 | 1 test |
| Optic atrophy 3 | 1 test |
| Ornithine aminotransferase deficiency | 1 test |
| Ornithine carbamoyltransferase deficiency | 1 test |
| Orofacial-digital syndrome IV | 1 test |
| Orofaciodigital syndrome I | 1 test |
| Orofaciodigital syndrome type 6 | 1 test |
| Oroticaciduria | 1 test |
| Osteopetrosis with renal tubular acidosis | 1 test |
| Oto-palato-digital syndrome, type I | 1 test |
| Oxoglutaricaciduria | 1 test |
| PEHO-like syndrome | 1 test |
| PGM1-congenital disorder of glycosylation | 1 test |
| PHARC syndrome | 1 test |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 test |
| PMM2-congenital disorder of glycosylation | 1 test |
| PSAT deficiency | 1 test |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 test |
| PYCR1-related de Barsy syndrome | 1 test |
| Pancreatic agenesis 2 | 1 test |
| Pancreatic insufficiency-anemia-hyperostosis syndrome | 1 test |
| Papillon-Lefèvre syndrome | 1 test |
| Parkinson disease 11, autosomal dominant, susceptibility to | 1 test |
| Parkinson disease 17 | 1 test |
| Parkinson disease 18, autosomal dominant, susceptibility to | 1 test |
| Parkinson disease 22, autosomal dominant | 1 test |
| Parkinsonian-pyramidal syndrome | 1 test |
| Parkinsonism-dystonia 3, childhood-onset | 1 test |
| Paroxysmal nocturnal hemoglobinuria 2 | 1 test |
| Paroxysmal nonkinesigenic dyskinesia 1 | 1 test |
| Periventricular heterotopia with microcephaly, autosomal recessive | 1 test |
| Periventricular nodular heterotopia 7 | 1 test |
| Peroxisome biogenesis disorder 10B | 1 test |
| Peroxisome biogenesis disorder 11A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 12A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 13A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 14B | 1 test |
| Peroxisome biogenesis disorder 2A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 3A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 5A (Zellweger) | 1 test |
| Peroxisome biogenesis disorder 6B | 1 test |
| Peroxisome biogenesis disorder 7B | 1 test |
| Peroxisome biogenesis disorder 8B | 1 test |
| Perrault syndrome 2 | 1 test |
| Perrault syndrome 3 | 1 test |
| Perrault syndrome 4 | 1 test |
| Peters plus syndrome | 1 test |
| Pettigrew syndrome | 1 test |
| Phenylketonuria | 1 test |
| Pheochromocytoma | 1 test |
| Pheochromocytoma/paraganglioma syndrome 2 | 1 test |
| Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 1 test |
| Phosphoribosylpyrophosphate synthetase superactivity | 1 test |
| Phytanic acid storage disease | 1 test |
| Piebaldism | 1 test |
| Pierpont syndrome | 1 test |
| Pierson syndrome | 1 test |
| Pigmentary pallidal degeneration | 1 test |
| Pigmented nodular adrenocortical disease, primary, 3 | 1 test |
| Pilarowski-Bjornsson syndrome | 1 test |
| Pitt-Hopkins syndrome | 1 test |
| Pitt-Hopkins-like syndrome 2 | 1 test |
| Pituitary dependent hypercortisolism | 1 test |
| Pituitary hormone deficiency, combined, 1 | 1 test |
| Pituitary hormone deficiency, combined, 2 | 1 test |
| Poirier-Bienvenu neurodevelopmental syndrome | 1 test |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | 1 test |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | 1 test |
| Polyglucosan body myopathy type 1 | 1 test |
| Polyhydramnios, megalencephaly, and symptomatic epilepsy | 1 test |
| Pontocerebellar hypoplasia type 10 | 1 test |
| Pontocerebellar hypoplasia type 1A | 1 test |
| Pontocerebellar hypoplasia type 1B | 1 test |
| Pontocerebellar hypoplasia type 2A | 1 test |
| Pontocerebellar hypoplasia type 2B | 1 test |
| Pontocerebellar hypoplasia type 2C | 1 test |
| Pontocerebellar hypoplasia type 2D | 1 test |
| Pontocerebellar hypoplasia type 2E | 1 test |
| Pontocerebellar hypoplasia type 4 | 1 test |
| Pontocerebellar hypoplasia type 5 | 1 test |
| Pontocerebellar hypoplasia type 6 | 1 test |
| Pontocerebellar hypoplasia type 7 | 1 test |
| Pontocerebellar hypoplasia type 8 | 1 test |
| Pontocerebellar hypoplasia type 9 | 1 test |
| Pontocerebellar hypoplasia, type 11 | 1 test |
| Pontocerebellar hypoplasia, type 12 | 1 test |
| Pontocerebellar hypoplasia, type 1C | 1 test |
| Pontocerebellar hypoplasia, type 1D | 1 test |
| Pontocerebellar hypoplasia, type 1E | 1 test |
| Pontocerebellar hypoplasia, type 2F | 1 test |
| Porencephaly-microcephaly-bilateral congenital cataract syndrome | 1 test |
| Porphobilinogen synthase deficiency | 1 test |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 1 test |
| Posterior column ataxia-retinitis pigmentosa syndrome | 1 test |
| Premature ovarian failure 3 | 1 test |
| Primary CD59 deficiency | 1 test |
| Primary ciliary dyskinesia 15 | 1 test |
| Primary ciliary dyskinesia 35 | 1 test |
| Primary ciliary dyskinesia 5 | 1 test |
| Primary coenzyme Q10 deficiency 8 | 1 test |
| Primary erythromelalgia | 1 test |
| Primary hyperoxaluria type 3 | 1 test |
| Primary hyperoxaluria, type I | 1 test |
| Primary hyperoxaluria, type II | 1 test |
| Primary hypomagnesemia | 1 test |
| Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | 1 test |
| Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | 1 test |
| Primrose syndrome | 1 test |
| Progressive encephalopathy with leukodystrophy due to DECR deficiency | 1 test |
| Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | 1 test |
| Progressive myoclonic epilepsy type 3 | 1 test |
| Progressive myoclonic epilepsy type 6 | 1 test |
| Progressive myoclonic epilepsy type 7 | 1 test |
| Progressive myoclonic epilepsy type 8 | 1 test |
| Progressive sclerosing poliodystrophy | 1 test |
| Progressive supranuclear palsy-parkinsonism syndrome | 1 test |
| Proline dehydrogenase deficiency | 1 test |
| Propionic acidemia | 1 test |
| Prostate cancer | 1 test |
| Protoporphyria, erythropoietic, 1 | 1 test |
| Proximal myopathy with extrapyramidal signs | 1 test |
| Pseudo-TORCH syndrome 1 | 1 test |
| Pseudohypoaldosteronism type 2C | 1 test |
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 1 test |
| Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | 1 test |
| Pulmonary hypertension, neonatal, susceptibility to | 1 test |
| Pyknodysostosis | 1 test |
| Pyridoxal phosphate-responsive seizures | 1 test |
| Pyridoxine-dependent epilepsy | 1 test |
| Pyruvate carboxylase deficiency | 1 test |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 test |
| Pyruvate dehydrogenase E1-beta deficiency | 1 test |
| Pyruvate dehydrogenase E2 deficiency | 1 test |
| Pyruvate dehydrogenase E3 deficiency | 1 test |
| Pyruvate dehydrogenase E3-binding protein deficiency | 1 test |
| Pyruvate dehydrogenase phosphatase deficiency | 1 test |
| Pyruvate kinase deficiency of red cells | 1 test |
| RFT1-congenital disorder of glycosylation | 1 test |
| RIDDLE syndrome | 1 test |
| RIN2 syndrome | 1 test |
| Radial aplasia-thrombocytopenia syndrome | 1 test |
| Rafiq syndrome | 1 test |
| Rajab interstitial lung disease with brain calcifications 1 | 1 test |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 1 test |
| Regressive spondylometaphyseal dysplasia | 1 test |
| Renal carnitine transport defect | 1 test |
| Renal hypomagnesemia 2 | 1 test |
| Renal hypomagnesemia 4 | 1 test |
| Renal hypomagnesemia 5 with ocular involvement | 1 test |
| Renal tubular dysgenesis of genetic origin | 1 test |
| Renal-hepatic-pancreatic dysplasia 1 | 1 test |
| Renpenning syndrome | 1 test |
| Reticular dysgenesis | 1 test |
| Reticulate acropigmentation of Kitamura | 1 test |
| Retinitis pigmentosa 39 | 1 test |
| Retinitis pigmentosa 42 | 1 test |
| Retinitis pigmentosa 46 | 1 test |
| Retinitis pigmentosa 50 | 1 test |
| Retinitis pigmentosa 51 | 1 test |
| Retinitis pigmentosa 59 | 1 test |
| Retinitis pigmentosa 73 | 1 test |
| Retinitis pigmentosa 74 | 1 test |
| Retinitis pigmentosa 76 | 1 test |
| Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | 1 test |
| Rhabdoid tumor predisposition syndrome 1 | 1 test |
| Rhabdoid tumor predisposition syndrome 2 | 1 test |
| Rhizomelic chondrodysplasia punctata type 1 | 1 test |
| Rhizomelic chondrodysplasia punctata type 2 | 1 test |
| Rhizomelic chondrodysplasia punctata type 3 | 1 test |
| Ritscher-Schinzel syndrome 1 | 1 test |
| Ritscher-Schinzel syndrome 2 | 1 test |
| Roberts-SC phocomelia syndrome | 1 test |
| Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | 1 test |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 1 test |
| Rothmund-Thomson syndrome type 3 | 1 test |
| Rotor syndrome | 1 test |
| Roussy-Lévy syndrome | 1 test |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 test |
| SIN3A-related intellectual disability syndrome due to a point mutation | 1 test |
| SLC35A1-congenital disorder of glycosylation | 1 test |
| SLC35A2-congenital disorder of glycosylation | 1 test |
| SLC39A8-CDG | 1 test |
| SSR4-congenital disorder of glycosylation | 1 test |
| STT3A-congenital disorder of glycosylation | 1 test |
| Saldino-Mainzer syndrome | 1 test |
| Salla disease | 1 test |
| Sandhoff disease | 1 test |
| Schaaf-Yang syndrome | 1 test |
| Schinzel phocomelia syndrome | 1 test |
| Schizencephaly | 1 test |
| Schizophrenia | 1 test |
| Schuurs-Hoeijmakers syndrome | 1 test |
| Sclerosteosis 2 | 1 test |
| Seckel syndrome 1 | 1 test |
| Seckel syndrome 5 | 1 test |
| Seckel syndrome 6 | 1 test |
| Seizures, benign familial infantile, 2 | 1 test |
| Seizures, benign familial infantile, 5 | 1 test |
| Seizures, benign familial neonatal, 1 | 1 test |
| Seizures, benign familial neonatal, 2 | 1 test |
| Selective pituitary resistance to thyroid hormone | 1 test |
| Senior-Loken syndrome 1 | 1 test |
| Senior-Loken syndrome 6 | 1 test |
| Senior-Loken syndrome 7 | 1 test |
| Senior-Loken syndrome 9 | 1 test |
| Septo-optic dysplasia sequence | 1 test |
| Severe X-linked myotubular myopathy | 1 test |
| Severe combined immunodeficiency due to LAT deficiency | 1 test |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 test |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 1 test |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 test |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 1 test |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 test |
| Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 1 test |
| Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 1 test |
| Severe myoclonic epilepsy in infancy | 1 test |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 test |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 1 test |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 1 test |
| Shprintzen-Goldberg syndrome | 1 test |
| Shwachman-Diamond syndrome 1 | 1 test |
| Sialidosis type 2 | 1 test |
| Sialuria | 1 test |
| Sideroblastic anemia 2 | 1 test |
| Sideroblastic anemia 3 | 1 test |
| Sinoatrial node dysfunction and deafness | 1 test |
| Sjögren-Larsson syndrome | 1 test |
| Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | 1 test |
| Skraban-Deardorff syndrome | 1 test |
| Smith-Lemli-Opitz syndrome | 1 test |
| Smith-Magenis syndrome | 1 test |
| Smith-McCort dysplasia 1 | 1 test |
| Snijders Blok-Campeau syndrome | 1 test |
| Sotos syndrome | 1 test |
| Spastic ataxia 1 | 1 test |
| Spastic ataxia 2 | 1 test |
| Spastic ataxia 4 | 1 test |
| Spastic ataxia 5 | 1 test |
| Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 1 test |
| Spastic paraplegia 80, autosomal dominant | 1 test |
| Spastic paraplegia 81, autosomal recessive | 1 test |
| Spastic paraplegia 82, autosomal recessive | 1 test |
| Spastic paraplegia 85, autosomal recessive | 1 test |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 test |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | 1 test |
| Spastic tetraplegia and axial hypotonia, progressive | 1 test |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 1 test |
| Spermatogenic failure, Y-linked, 2 | 1 test |
| Sphingolipid activator protein 1 deficiency | 1 test |
| Spinal muscular atrophy with congenital bone fractures 2 | 1 test |
| Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | 1 test |
| Spinocerebellar ataxia 45 | 1 test |
| Spinocerebellar ataxia 47 | 1 test |
| Spinocerebellar ataxia 48 | 1 test |
| Spinocerebellar ataxia 49 | 1 test |
| Spinocerebellar ataxia type 11 | 1 test |
| Spinocerebellar ataxia type 13 | 1 test |
| Spinocerebellar ataxia type 14 | 1 test |
| Spinocerebellar ataxia type 19/22 | 1 test |
| Spinocerebellar ataxia type 21 | 1 test |
| Spinocerebellar ataxia type 23 | 1 test |
| Spinocerebellar ataxia type 27 | 1 test |
| Spinocerebellar ataxia type 28 | 1 test |
| Spinocerebellar ataxia type 34 | 1 test |
| Spinocerebellar ataxia type 35 | 1 test |
| Spinocerebellar ataxia type 37 | 1 test |
| Spinocerebellar ataxia type 38 | 1 test |
| Spinocerebellar ataxia type 42 | 1 test |
| Spinocerebellar ataxia type 5 | 1 test |
| Spinocerebellar ataxia, autosomal recessive 23 | 1 test |
| Spinocerebellar ataxia, autosomal recessive 24 | 1 test |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 1 test |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | 1 test |
| Spondylocostal dysostosis 1, autosomal recessive | 1 test |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | 1 test |
| Spondyloepimetaphyseal dysplasia, Bieganski type | 1 test |
| Spondyloepiphyseal dysplasia congenita | 1 test |
| Spongy degeneration of central nervous system | 1 test |
| Stankiewicz-Isidor syndrome | 1 test |
| Steinert myotonic dystrophy syndrome | 1 test |
| Striatal degeneration, autosomal dominant 2 | 1 test |
| Stromme syndrome | 1 test |
| Succinate-semialdehyde dehydrogenase deficiency | 1 test |
| Succinyl-CoA acetoacetate transferase deficiency | 1 test |
| Sulfite oxidase deficiency | 1 test |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 1 test |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 | 1 test |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 1 test |
| Susceptibility to HIV infection | 1 test |
| Sweeney-Cox syndrome | 1 test |
| Symmetrical dyschromatosis of extremities | 1 test |
| Syndromic X-linked intellectual disability 14 | 1 test |
| Syndromic X-linked intellectual disability 94 | 1 test |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 test |
| Syndromic X-linked intellectual disability Nascimento type | 1 test |
| Syndromic X-linked intellectual disability Raymond type | 1 test |
| Syndromic X-linked intellectual disability Siderius type | 1 test |
| Syndromic X-linked intellectual disability Snyder type | 1 test |
| Systemic lupus erythematosus | 1 test |
| TARP syndrome | 1 test |
| TMEM165-congenital disorder of glycosylation | 1 test |
| TMEM199-CDG | 1 test |
| Tall stature-scoliosis-macrodactyly of the great toes syndrome | 1 test |
| Tangier disease | 1 test |
| Tatton-Brown-Rahman overgrowth syndrome | 1 test |
| Tay-Sachs disease | 1 test |
| Tay-Sachs disease, variant AB | 1 test |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 test |
| Temple-Baraitser syndrome | 1 test |
| Temtamy preaxial brachydactyly syndrome | 1 test |
| Temtamy syndrome | 1 test |
| Tetralogy of Fallot | 1 test |
| Thrombocytopenia 4 | 1 test |
| Thrombophilia due to activated protein C resistance | 1 test |
| Thrombophilia due to thrombin defect | 1 test |
| Thyroid hormone metabolism, abnormal 1 | 1 test |
| Tibial muscular dystrophy | 1 test |
| Timothy syndrome | 1 test |
| Torsion dystonia 2 | 1 test |
| Torsion dystonia 4 | 1 test |
| Torsion dystonia 6 | 1 test |
| Townes-Brocks syndrome 1 | 1 test |
| Treacher Collins syndrome 1 | 1 test |
| Treacher Collins syndrome 2 | 1 test |
| Treacher Collins syndrome 3 | 1 test |
| Tremor, hereditary essential, 1 | 1 test |
| Tremor, hereditary essential, 5 | 1 test |
| Tricho-dento-osseous syndrome | 1 test |
| Trichorhinophalangeal syndrome, type III | 1 test |
| Trichothiodystrophy 1, photosensitive | 1 test |
| Trichothiodystrophy 5, nonphotosensitive | 1 test |
| Triglyceride storage disease with ichthyosis | 1 test |
| Triosephosphate isomerase deficiency | 1 test |
| Troyer syndrome | 1 test |
| Tuberous sclerosis 1 | 1 test |
| Tuberous sclerosis 2 | 1 test |
| Tumor predisposition syndrome 3 | 1 test |
| Type 2 diabetes mellitus | 1 test |
| Tyrosinemia type I | 1 test |
| Tyrosinemia type III | 1 test |
| UV-sensitive syndrome 2 | 1 test |
| Ulerythema ophryogenesis | 1 test |
| Ullrich congenital muscular dystrophy 1A | 1 test |
| Ulnar-mammary syndrome | 1 test |
| Unverricht-Lundborg syndrome | 1 test |
| Urocanate hydratase deficiency | 1 test |
| Uruguay Faciocardiomusculoskeletal syndrome | 1 test |
| Usher syndrome type 1F | 1 test |
| Usher syndrome type 2C | 1 test |
| Uveal coloboma-cleft lip and palate-intellectual disability | 1 test |
| VPS13A-related neurodegenerative disease | 1 test |
| Vanishing white matter disease | 1 test |
| Variegate porphyria | 1 test |
| Ververi-Brady syndrome | 1 test |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 test |
| Vesicoureteral reflux 2 | 1 test |
| Vici syndrome | 1 test |
| Vitamin D-dependent rickets type II with alopecia | 1 test |
| Vitamin D-dependent rickets, type 1A | 1 test |
| Waardenburg syndrome type 1 | 1 test |
| Waardenburg syndrome type 2E | 1 test |
| Warburg micro syndrome 1 | 1 test |
| Warburg micro syndrome 3 | 1 test |
| Warburg micro syndrome 4 | 1 test |
| Weaver syndrome | 1 test |
| Weill-Marchesani syndrome 1 | 1 test |
| Welander distal myopathy | 1 test |
| Wieacker-Wolff syndrome, female-restricted | 1 test |
| Wiedemann-Steiner syndrome | 1 test |
| Wilms tumor 1 | 1 test |
| Wilson disease | 1 test |
| Wolff-Parkinson-White pattern | 1 test |
| Wolfram syndrome 2 | 1 test |
| Woodhouse-Sakati syndrome | 1 test |
| Wrinkly skin syndrome | 1 test |
| X-linked Emery-Dreifuss muscular dystrophy | 1 test |
| X-linked Opitz G/BBB syndrome | 1 test |
| X-linked chondrodysplasia punctata 1 | 1 test |
| X-linked cone-rod dystrophy 3 | 1 test |
| X-linked distal spinal muscular atrophy type 3 | 1 test |
| X-linked dystonia-parkinsonism | 1 test |
| X-linked hydrocephalus syndrome | 1 test |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 1 test |
| X-linked intellectual disability Cabezas type | 1 test |
| X-linked intellectual disability, Cantagrel type | 1 test |
| X-linked intellectual disability, Stocco dos Santos type | 1 test |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 test |
| X-linked myopathy with excessive autophagy | 1 test |
| X-linked myopathy with postural muscle atrophy | 1 test |
| X-linked progressive cerebellar ataxia | 1 test |
| X-linked reticulate pigmentary disorder | 1 test |
| X-linked scapuloperoneal muscular dystrophy | 1 test |
| X-linked sideroblastic anemia 1 | 1 test |
| X-linked sideroblastic anemia with ataxia | 1 test |
| XK-related neurodegenerative disease | 1 test |
| Xeroderma pigmentosum, group G | 1 test |
| ZTTK syndrome | 1 test |