| Disease name . | Abbreviation . | Number of unique mutant/affected samples . | Number of total mutant/affected samples . |
|---|---|---|---|
| Ataxia-Oculomotor Apraxia 2 | AOA2 | 4 | 5 |
| Ataxia-Telangiectasia | AT | 3 | 4 |
| Bloom syndrome | BLM | 4 | 9 |
| Breast Cancer, Type 1 | BRCA1 | 3 | 3 |
| Beckwith-Wiedemann Syndrome | BWS | 2 | 2 |
| Cornelia de Lange Syndrome 1 | CDLS1 | 2 | 2 |
| Chronic myeloid leukemia | CML | 1 | 1 |
| DiGeorge Syndrome | DGS | 3 | 3 |
| Myotonic dystrophy type I | DM1 | 14 | 14 |
| Fanconi anemia | FA | 5 | 5 |
| Friedreich’s ataxia | FRDA | 13 | 13 |
| Fragile-X syndrome | FXS | 14 | 20 |
| Huntington’s disease | HD | 13 | 13 |
| Hutchinson-Gilford Progeria Syndrome | HGPS | 5 | 6 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | ICF1 | 1 | 1 |
| Lesch–Nyhan Syndrome | LNS | 3 | 4 |
| Mental retardation, autosomal dominant 1 caused by a deletion in MBD5 | MRD1 | 1 | 1 |
| Rothmund-Thomson Syndrome | RTS | 3 | 4 |
| Rett Syndrome | RTT | 5 | 9 |
| Rett Syndrome, congenital variant | RTTC | 2 | 2 |
| Spinal and bulbar muscular atrophy | SBMA | 1 | 1 |
| Spinocerebellar ataxia type 1 | SCA1 | 3 | 3 |
| Seckel Syndrome | SCKL1 | 1 | 1 |
| Sotos Syndrome 1 | SOTOS1 | 1 | 1 |
| Down Syndrome | TRI21 | 2 | 2 |
| Williams-Beuren Syndrome | WBS | 2 | 2 |
| Wolf-Hirschhorn Syndrome | WHS | 1 | 1 |
| Werner Syndrome | WRN | 3 | 3 |
| Turner Syndrome | XO | 2 | 2 |
| Translocation of the X chromosome | XTRANS | 2 | 2 |
| 4 X chromosomes | XXXX/XXXXY | 2 | 3 |
| Klinefelter Syndrome | XXY | 2 | 2 |
| Disease name . | Abbreviation . | Number of unique mutant/affected samples . | Number of total mutant/affected samples . |
|---|---|---|---|
| Ataxia-Oculomotor Apraxia 2 | AOA2 | 4 | 5 |
| Ataxia-Telangiectasia | AT | 3 | 4 |
| Bloom syndrome | BLM | 4 | 9 |
| Breast Cancer, Type 1 | BRCA1 | 3 | 3 |
| Beckwith-Wiedemann Syndrome | BWS | 2 | 2 |
| Cornelia de Lange Syndrome 1 | CDLS1 | 2 | 2 |
| Chronic myeloid leukemia | CML | 1 | 1 |
| DiGeorge Syndrome | DGS | 3 | 3 |
| Myotonic dystrophy type I | DM1 | 14 | 14 |
| Fanconi anemia | FA | 5 | 5 |
| Friedreich’s ataxia | FRDA | 13 | 13 |
| Fragile-X syndrome | FXS | 14 | 20 |
| Huntington’s disease | HD | 13 | 13 |
| Hutchinson-Gilford Progeria Syndrome | HGPS | 5 | 6 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | ICF1 | 1 | 1 |
| Lesch–Nyhan Syndrome | LNS | 3 | 4 |
| Mental retardation, autosomal dominant 1 caused by a deletion in MBD5 | MRD1 | 1 | 1 |
| Rothmund-Thomson Syndrome | RTS | 3 | 4 |
| Rett Syndrome | RTT | 5 | 9 |
| Rett Syndrome, congenital variant | RTTC | 2 | 2 |
| Spinal and bulbar muscular atrophy | SBMA | 1 | 1 |
| Spinocerebellar ataxia type 1 | SCA1 | 3 | 3 |
| Seckel Syndrome | SCKL1 | 1 | 1 |
| Sotos Syndrome 1 | SOTOS1 | 1 | 1 |
| Down Syndrome | TRI21 | 2 | 2 |
| Williams-Beuren Syndrome | WBS | 2 | 2 |
| Wolf-Hirschhorn Syndrome | WHS | 1 | 1 |
| Werner Syndrome | WRN | 3 | 3 |
| Turner Syndrome | XO | 2 | 2 |
| Translocation of the X chromosome | XTRANS | 2 | 2 |
| 4 X chromosomes | XXXX/XXXXY | 2 | 3 |
| Klinefelter Syndrome | XXY | 2 | 2 |
| Disease name . | Abbreviation . | Number of unique mutant/affected samples . | Number of total mutant/affected samples . |
|---|---|---|---|
| Ataxia-Oculomotor Apraxia 2 | AOA2 | 4 | 5 |
| Ataxia-Telangiectasia | AT | 3 | 4 |
| Bloom syndrome | BLM | 4 | 9 |
| Breast Cancer, Type 1 | BRCA1 | 3 | 3 |
| Beckwith-Wiedemann Syndrome | BWS | 2 | 2 |
| Cornelia de Lange Syndrome 1 | CDLS1 | 2 | 2 |
| Chronic myeloid leukemia | CML | 1 | 1 |
| DiGeorge Syndrome | DGS | 3 | 3 |
| Myotonic dystrophy type I | DM1 | 14 | 14 |
| Fanconi anemia | FA | 5 | 5 |
| Friedreich’s ataxia | FRDA | 13 | 13 |
| Fragile-X syndrome | FXS | 14 | 20 |
| Huntington’s disease | HD | 13 | 13 |
| Hutchinson-Gilford Progeria Syndrome | HGPS | 5 | 6 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | ICF1 | 1 | 1 |
| Lesch–Nyhan Syndrome | LNS | 3 | 4 |
| Mental retardation, autosomal dominant 1 caused by a deletion in MBD5 | MRD1 | 1 | 1 |
| Rothmund-Thomson Syndrome | RTS | 3 | 4 |
| Rett Syndrome | RTT | 5 | 9 |
| Rett Syndrome, congenital variant | RTTC | 2 | 2 |
| Spinal and bulbar muscular atrophy | SBMA | 1 | 1 |
| Spinocerebellar ataxia type 1 | SCA1 | 3 | 3 |
| Seckel Syndrome | SCKL1 | 1 | 1 |
| Sotos Syndrome 1 | SOTOS1 | 1 | 1 |
| Down Syndrome | TRI21 | 2 | 2 |
| Williams-Beuren Syndrome | WBS | 2 | 2 |
| Wolf-Hirschhorn Syndrome | WHS | 1 | 1 |
| Werner Syndrome | WRN | 3 | 3 |
| Turner Syndrome | XO | 2 | 2 |
| Translocation of the X chromosome | XTRANS | 2 | 2 |
| 4 X chromosomes | XXXX/XXXXY | 2 | 3 |
| Klinefelter Syndrome | XXY | 2 | 2 |
| Disease name . | Abbreviation . | Number of unique mutant/affected samples . | Number of total mutant/affected samples . |
|---|---|---|---|
| Ataxia-Oculomotor Apraxia 2 | AOA2 | 4 | 5 |
| Ataxia-Telangiectasia | AT | 3 | 4 |
| Bloom syndrome | BLM | 4 | 9 |
| Breast Cancer, Type 1 | BRCA1 | 3 | 3 |
| Beckwith-Wiedemann Syndrome | BWS | 2 | 2 |
| Cornelia de Lange Syndrome 1 | CDLS1 | 2 | 2 |
| Chronic myeloid leukemia | CML | 1 | 1 |
| DiGeorge Syndrome | DGS | 3 | 3 |
| Myotonic dystrophy type I | DM1 | 14 | 14 |
| Fanconi anemia | FA | 5 | 5 |
| Friedreich’s ataxia | FRDA | 13 | 13 |
| Fragile-X syndrome | FXS | 14 | 20 |
| Huntington’s disease | HD | 13 | 13 |
| Hutchinson-Gilford Progeria Syndrome | HGPS | 5 | 6 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | ICF1 | 1 | 1 |
| Lesch–Nyhan Syndrome | LNS | 3 | 4 |
| Mental retardation, autosomal dominant 1 caused by a deletion in MBD5 | MRD1 | 1 | 1 |
| Rothmund-Thomson Syndrome | RTS | 3 | 4 |
| Rett Syndrome | RTT | 5 | 9 |
| Rett Syndrome, congenital variant | RTTC | 2 | 2 |
| Spinal and bulbar muscular atrophy | SBMA | 1 | 1 |
| Spinocerebellar ataxia type 1 | SCA1 | 3 | 3 |
| Seckel Syndrome | SCKL1 | 1 | 1 |
| Sotos Syndrome 1 | SOTOS1 | 1 | 1 |
| Down Syndrome | TRI21 | 2 | 2 |
| Williams-Beuren Syndrome | WBS | 2 | 2 |
| Wolf-Hirschhorn Syndrome | WHS | 1 | 1 |
| Werner Syndrome | WRN | 3 | 3 |
| Turner Syndrome | XO | 2 | 2 |
| Translocation of the X chromosome | XTRANS | 2 | 2 |
| 4 X chromosomes | XXXX/XXXXY | 2 | 3 |
| Klinefelter Syndrome | XXY | 2 | 2 |
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