All individuals with variants in gene MECP2

4569 entries on 46 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

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Owner     
00000026 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000029 - PubMed: Almomani 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000102 - PubMed: Almomani 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 6 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 5 1 Yu Sun
00024234 - PubMed: Gilissen 2014 - - - - - 16y 0 - - ID, RTT , severe ID, epilepsy, cerebral atrophy without structural defects, short stature, head circumference -2 SD, hypotonic appearance, mild upslanting palpebral fissures, prominent philtrum; 16y-sudden unexplained death 1 1 Johan den Dunnen
00036104 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036105 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036106 - - - - - Germany - - 0 - - ? Rett syndrome 1 1 Andreas Laner
00038654 - PubMed: Todorov 2012, Journal: Todorov 2012 - F - Bulgaria - - 0 - - MRX;IDX MRX, see paper 1 2 Tihomir Todorov
00038655 - PubMed: Todorov 2012, Journal: Todorov 2012 - F - Bulgaria - - 0 - - MRX;IDX MRX, see paper 1 1 Tihomir Todorov
00038656 - PubMed: Tarpey 2009 208 families with X-linked mental retardation M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX MRX 1 2 Johan den Dunnen
00038657 - PubMed: Todorov 2012, Journal: Todorov 2012 - F - Romania - - 0 - - MRX;IDX MRX, see paper 2 1 Tihomir Todorov
00038658 - PubMed: Todorov 2012, Journal: Todorov 2012 - F - Romania - - 0 - - MRX;IDX MRX, see paper 1 2 Tihomir Todorov
00038659 - PubMed: Todorov 2012, Journal: Todorov 2012 - F - Bulgaria - - 0 - - MRX;IDX MRX, see paper 1 3 Tihomir Todorov
00038660 - PubMed: Todorov 2012, Journal: Todorov 2012 - F - Bulgaria - - 0 - - MRX;IDX MRX, see paper 1 1 Tihomir Todorov
00038661 - PubMed: Tarpey 2009 208 families with X-linked mental retardation M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX MRX 1 2 Johan den Dunnen
00038662 - PubMed: Todorov 2012, Journal: Todorov 2012 - F - Bulgaria - - 0 - - MRX;IDX MRX, see paper 1 1 Tihomir Todorov
00038663 - PubMed: Todorov 2012, Journal: Todorov 2012 - F - Bulgaria Gypsy - 0 - - MRX;IDX MRX, see paper 1 1 Tihomir Todorov
00038698 - PubMed: Todorov 2012, Journal: Todorov 2012 - - - Bulgaria - - 0 - - MRX;IDX see paper ... 1 1 Johan den Dunnen
00039418 - Bunyan, ...  - F - - - - 0 - - - Rett syndrome - Not certain 1 1 RettBASE
00039419 - Bunyan, ...  - F - - - - 0 - - - Rett syndrome - Not certain 1 1 RettBASE
00039420 - PubMed: Jinxiu Shi - F - - - - 0 - - - Rett syndrome - Classical 1 1 RettBASE
00039421 - PubMed: M Meins - M - - - - 0 - - - Not Rett synd. - Sporadic mental retardation 1 1 RettBASE
00039422 - PubMed: M Meins - F - - - - 0 - - - Not Rett synd. - Unaffected family member 1 1 RettBASE
00039423 - PubMed: Van Esch H - M - - - - 0 - - - Not Rett synd. - X-linked mental retardation 1 1 RettBASE
00039424 - PubMed: Van Esch H - M - - - - 0 - - - Not Rett synd. - X-linked mental retardation 1 1 RettBASE
00039425 - PubMed: Van Esch H - M - - - - 0 - - - Not Rett synd. - Sporadic mental retardation 1 1 RettBASE
00039426 - PubMed: Van Esch H - F - - - - 0 - - - Not Rett synd. - Unaffected family member 1 1 RettBASE
00039427 - PubMed: Van Esch H - F - - - - 0 - - - Not Rett synd. - Unaffected family member 1 1 RettBASE
00039428 - PubMed: Van Esch H - M - - - - 0 - - - Not Rett synd. - X-linked mental retardation 1 1 RettBASE
00039429 - PubMed: Van Esch H - M - - - - 0 - - - Not Rett synd. - X-linked mental retardation 1 1 RettBASE
00039430 - PubMed: Van Esch H - F - - - - 0 - - - Not Rett synd. - Unaffected family member 1 1 RettBASE
00039431 - PubMed: Van Esch H - F - - - - 0 - - - Not Rett synd. - Unaffected family member 1 1 RettBASE
00039432 - PubMed: Van Esch H - F - - - - 0 - - - Not Rett synd. - Unaffected family member 1 1 RettBASE
00039433 - PubMed: Van Esch H - M - - - - 0 - - - Not Rett synd. - X-linked mental retardation 1 1 RettBASE
00039434 - PubMed: Van Esch H - M - - - - 0 - - - Not Rett synd. - X-linked mental retardation 1 1 RettBASE
00039435 - PubMed: Van Esch H - F - - - - 0 - - - Not Rett synd. - Unaffected family member 1 1 RettBASE
00039436 - PubMed: Van Esch H - F - - - - 0 - - - Not Rett synd. - Unaffected family member 1 1 RettBASE
00039437 - PubMed: Van Esch H - F - - - - 0 - - - Not Rett synd. - Unaffected family member 1 1 RettBASE
00039438 - Cardiff, ...  - F - - - - 0 - - - Rett syndrome - Classical 1 1 RettBASE
00039439 - Cardiff, ...  - F - - - - 0 - - - Rett syndrome - Atypical 1 1 RettBASE
00039440 - Cardiff, ...  - F - - - - 0 - - - Rett syndrome - Classical 1 1 RettBASE
00039441 - PubMed: D Bartholdi - F - - - - 0 - - - Rett syndrome - Classical 1 1 RettBASE
00039442 - PubMed: Kirstine Ravn - F - - - - 0 - - - Rett syndrome - Classical 1 1 RettBASE
00039443 - PubMed: Quenard - F - - - - 0 - - - Rett syndrome - classical 1 1 RettBASE
00039444 - PubMed: Quenard - F - - - - 0 - - - Rett syndrome - classical 1 1 RettBASE
00039445 - PubMed: Quenard - F - - - - 0 - - - Rett syndrome - classical 1 1 RettBASE
00039446 - PubMed: Pan 2006 - F - - - - 0 - - - Rett syndrome - classical 1 1 RettBASE
00039447 - PubMed: Li - F - - - - 0 - - - Rett syndrome - not certain 1 1 RettBASE
00039448 - PubMed: Archer HL - F - - - - 0 - - - Rett syndrome - classical 1 1 RettBASE
00039449 - PubMed: Archer HL - F - - - - 0 - - - Rett syndrome - classical 1 1 RettBASE
00039450 - PubMed: Archer HL - F - - - - 0 - - - Rett syndrome - classical 1 1 RettBASE
00039451 - PubMed: Rajaei - F - - - - 0 - - - Rett syndrome - congenital 1 1 RettBASE
00039452 - PubMed: Kammoun - F - - - - 0 - - - Rett syndrome - atypical 1 1 RettBASE
00039453 - PubMed: Harvey - F - - - - 0 - - - Not Rett synd. - non-specific mental retardation 1 1 RettBASE
00039454 - PubMed: Harvey - F - - - - 0 - - - Not Rett synd. - non-specific mental retardation 1 1 RettBASE
00039455 - PubMed: Harvey - F - - - - 0 - - - Not Rett synd. - non-specific mental retardation 1 1 RettBASE
00039456 - PubMed: Bienvenu - F - - - - 0 - - - Not Rett synd. - Unaffected family member 1 1 RettBASE
00039457 - PubMed: Bienvenu - F - - - - 0 - - - Rett syndrome - Classical 1 1 RettBASE
00039458 - Boulanger, ...  - F - - - - 0 - - - Rett syndrome - Not certain 1 1 RettBASE
00039459 - Cardiff, ...  - F - - - - 0 - - - Rett syndrome - Atypical 1 1 RettBASE
00039460 - PubMed: Quenard - F - - - - 0 - - - Rett syndrome - classical 1 1 RettBASE
00039461 - PubMed: Mnatzakanian - F - - - - 0 - - - Rett syndrome - not certain 1 1 RettBASE
00039462 - PubMed: Archer HL - F - - - - 0 - - - Rett syndrome - atypical 1 1 RettBASE
00039463 - PubMed: Maortua - F - - - - 0 - - - Rett syndrome - atypical 1 1 RettBASE
00039464 - Bunyan, ...  - F - - - - 0 - - - Rett syndrome - Not certain 1 1 RettBASE
00039465 - PubMed: Hoffbuhr - F - - - - 0 - - - Rett syndrome - Not certain 2 1 RettBASE
00039466 - PubMed: Hoffbuhr - M - - - - 0 - - - Not Rett synd. - unaffected family member 1 1 RettBASE
00039467 - PubMed: Huppke - F - - - - 0 - - - Rett syndrome - Not certain 2 1 RettBASE
00039468 - PubMed: Amano - ? - - - - 0 - - - Rett syndrome - Not certain 2 1 RettBASE
00039469 - PubMed: Amano - ? - - - - 0 - - - Rett syndrome - Not certain 2 1 RettBASE
00039470 - PubMed: Amano - ? - - - - 0 - - - Rett syndrome - Not certain 2 1 RettBASE
00039471 - PubMed: Amano - ? - - - - 0 - - - Rett syndrome - Not certain 2 1 RettBASE
00039472 - PubMed: Amano - ? - - - - 0 - - - Rett syndrome - Not certain 2 1 RettBASE
00039473 - PubMed: Auranen - F - - - - 0 - - - Rett syndrome - Classical 1 1 RettBASE
00039474 - PubMed: Auranen - F - - - - 0 - - - Rett syndrome - Classical 1 1 RettBASE
00039475 - PubMed: Auranen - F - - - - 0 - - - Rett syndrome - Classical 1 1 RettBASE
00039476 - PubMed: Auranen - F - - - - 0 - - - Rett syndrome - Classical 1 1 RettBASE
00039477 - - - F - - - - 0 - - - Rett syndrome - Atypical 2 1 RettBASE
00039478 - - - ? - - - - 0 - - - Not Rett synd. - Non Rett syndrome control 1 1 RettBASE
00039479 - - - F - - - - 0 - - - Rett syndrome - Classical 2 1 RettBASE
00039480 - - - F - - - - 0 - - - Rett syndrome - Atypical 2 1 RettBASE
00039481 - - - F - - - - 0 - - - Rett syndrome - Atypical 2 1 RettBASE
00039482 - - - F - - - - 0 - - - Rett syndrome - Atypical 2 1 RettBASE
00039483 - - - F - - - - 0 - - - Rett syndrome - Atypical 2 1 RettBASE
00039484 - - - F - - - - 0 - - - Rett syndrome - Classical 2 1 RettBASE
00039485 - - - F - - - - 0 - - - Rett syndrome - Atypical 2 1 RettBASE
00039486 - - - M - - - - 0 - - - Not Rett synd. - Unaffected family member 1 1 RettBASE
00039487 - - - F - - - - 0 - - - Rett syndrome - Classical 2 1 RettBASE
00039488 - - - F - - - - 0 - - - Not Rett synd. - Unaffected family member 1 1 RettBASE
00039489 - - - F - - - - 0 - - - Rett syndrome - Classical 2 1 RettBASE
00039490 - - - F - - - - 0 - - - Rett syndrome - Classical 2 1 RettBASE
00039491 - - - F - - - - 0 - - - Rett syndrome - Classical 2 1 RettBASE
00039492 - PubMed: Xiang - ? - - - - 0 - - - Rett syndrome - Not certain 2 1 RettBASE
00039493 - PubMed: Xiang - ? - - - - 0 - - - Rett syndrome - Not certain 2 1 RettBASE
00039494 - PubMed: Buyse - F - - - - 0 - - - Rett syndrome - Not certain 3 1 RettBASE
00039495 - PubMed: Buyse - F - - - - 0 - - - Rett syndrome - Not certain 2 1 RettBASE
00039496 - PubMed: Buyse - F - - - - 0 - - - Rett syndrome - Not certain 2 1 RettBASE
00039497 - PubMed: Buyse - F - - - - 0 - - - Rett syndrome - Not certain 2 1 RettBASE
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