
 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|

 Variants
|

 Panel size
|

 Owner
|
00065231 |
26387595-Fam1PatII3 |
PubMed: Ratbi 2015, Journal: Ratbi 2015 |
2-generation family, affected brother/sister, unaffected heterozygous carrier parents |
F |
- |
Morocco |
- |
>16y |
0 |
- |
- |
HMLR1 |
Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), no retinal pigmentation (-HP:0007703), no macular dystrophy (-HP:0007754) |
1 |
2 |
Jamie Zeegers |
00065261 |
26387595-Fam1PatII4 |
PubMed: Ratbi 2015, Journal: Ratbi 2015 |
- |
M |
- |
Morocco |
- |
>12y |
0 |
- |
- |
HMLR1 |
Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), no retinal pigmentation (-HP:0007703), no macular dystrophy (-HP:0007754) |
1 |
1 |
Jamie Zeegers |
00065263 |
26387595-Fam2Pat1 |
PubMed: Ratbi 2015, Journal: Ratbi 2015 |
2-generation family, affected brother/sister, unaffected heterozygous carrier parents |
M |
no |
United States |
- |
>31y |
0 |
- |
- |
HMLR1 |
Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), macular dystrophy (HP:0007754) |
2 |
2 |
Jamie Zeegers |
00065265 |
26387595-Fam2PatII2 |
PubMed: Ratbi 2015, Journal: Ratbi 2015 |
- |
F |
no |
United States |
- |
>29y |
0 |
- |
- |
HMLR1 |
Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), macular dystrophy (HP:0007754) |
2 |
1 |
Jamie Zeegers |
00065270 |
26387595-Fam3PatII1 |
PubMed: Ratbi 2015, Journal: Ratbi 2015 |
2-generation family, 1 affected, unaffected heterozygous carrier parents |
F |
no |
Ireland |
- |
>19y |
0 |
- |
- |
HMLR1 |
Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597) |
2 |
1 |
Jamie Zeegers |
00065272 |
26387595-Fam4PatII1 |
PubMed: Ratbi 2015, Journal: Ratbi 2015 |
2-generation family, 1 affected, unaffected heterozygous carrier parents |
F |
no |
United Kingdom (Great Britain) |
- |
>24y |
0 |
- |
- |
HMLR1 |
Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754) |
2 |
1 |
Jamie Zeegers |
00072281 |
- |
- |
Parent of Heimler Syndrome patient |
F |
? |
Morocco |
- |
- |
0 |
- |
- |
Healthy/Control |
Unaffected |
1 |
5 |
Glenda Beaman |
00072283 |
- |
- |
Parent of Heimler Syndrome patient |
M |
? |
Morocco |
- |
- |
0 |
- |
- |
Healthy/Control |
Unaffected parent of Heimler Syndrome patient |
1 |
1 |
Glenda Beaman |
00072284 |
- |
- |
- |
F |
yes |
Morocco |
- |
- |
0 |
- |
- |
Healthy/Control |
Unaffected sibling of Heimler Syndrome patient |
1 |
1 |
Glenda Beaman |
00072285 |
- |
- |
- |
M |
yes |
Morocco |
- |
- |
0 |
- |
- |
Healthy/Control |
Unaffected sibling of Heimler Syndrome patient |
1 |
1 |
Glenda Beaman |
00072286 |
- |
- |
- |
F |
yes |
Morocco |
- |
- |
0 |
- |
- |
HMLR1 |
Heimler Syndrome patient; sensorineural hearing loss (HP:0000407), amelogenesis imperfecta (HP:0000705), nail abnormalities (HP:0001597) |
1 |
1 |
Glenda Beaman |
00081019 |
- |
Trujillano et al., submitted |
unaffected parents |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD1A |
Peroxisome biogenesis disorder 1A (Zellweger) (OMIM:214100) |
1 |
1 |
Daniel Trujillano |
00269115 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
? |
Large fontanelles (HP:0000239); Low-set ears (HP:0000369); Deviation of finger (HP:0004097); Depressed nasal bridge (HP:0005280); Abnormality of the face (HP:0000271); Hypertelorism (HP:0000316); Abnormality of the hand (HP:0001155); Talipes equinovarus (HP:0001762); Wide cranial sutures (HP:0010537); Muscular hypotonia (HP:0001252) |
1 |
1 |
Andreas Laner |
00269902 |
- |
- |
- |
? |
- |
- |
- |
- |
0 |
- |
- |
? |
Neonatal death (HP:0003811) |
1 |
1 |
IMGAG |
00283619 |
Pat719 |
PubMed: Yik 2009 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
2 |
1 |
Global Variome, with Curator vacancy |
00283620 |
- |
PubMed: Bean 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283621 |
Pat627 |
PubMed: Yik 2009 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283622 |
- |
PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Ebberink 2011, |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283623 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283624 |
- |
, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283625 |
- |
PubMed: Rosewich 2005, PubMed: Steinberg 1993 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
zellweger syndrome |
1 |
1 |
Global Variome, with Curator vacancy |
00283626 |
- |
PubMed: Rosewich 2005, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283627 |
- |
PubMed: Rosewich 2005, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283628 |
- |
PubMed: Reuber 1997, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283630 |
- |
PubMed: Thoms 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283631 |
- |
PubMed: Rosewich 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283632 |
- |
PubMed: Thoms 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283633 |
- |
PubMed: Mohebbi 2012 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283634 |
Pat616 |
PubMed: Yik 2009 |
- |
- |
- |
United States |
- |
- |
0 |
- |
- |
PBD |
- |
2 |
1 |
Global Variome, with Curator vacancy |
00283636 |
- |
PubMed: Maxwell 2002, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283637 |
- |
PubMed: Thoms 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283639 |
- |
PubMed: Steinberg 1993, PubMed: Walter 2001, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283640 |
- |
PubMed: Ebberink 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283641 |
- |
PubMed: Steinberg 1993, PubMed: Portsteffen 1997, PubMed: Ebberink 2011, PubMed: Steinberg 2004, PubMed: Reuber 1997, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283642 |
- |
PubMed: Rosewich 2005, , PubMed: Steinberg 1993, PubMed: Thoms 2011, PubMed: Steinberg 2004, PubMed: Maxwell 2002, PubMed: Ebberink 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283643 |
- |
PubMed: Richards 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283646 |
Pat604 |
PubMed: Yik 2009 |
- |
- |
- |
United States |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283648 |
- |
PubMed: Ebberink 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283649 |
- |
PubMed: Steinberg 1993, PubMed: Walter 2001 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283653 |
- |
PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283654 |
- |
PubMed: Thoms 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283656 |
- |
PubMed: Rosewich 2005, PubMed: Gärtner 1999, PubMed: Waterham 2012, PubMed: Weleber 1993, PubMed: Walter 2001 1997, PubMed: Bean 2013 1998, PubMed: Portsteffen 1997, PubMed: Reuber 1997, PubMed: Steinberg 1993, PubMed: Steinberg 2006 2001, 2005, |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283657 |
- |
PubMed: Reuber 1997 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283659 |
- |
PubMed: Maxwell 2005, PubMed: Steinberg 1993 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283660 |
- |
PubMed: Rosewich 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283661 |
- |
PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Thoms 2011, PubMed: Collins 1999, PubMed: Ebberink 2011, PubMed: Crane 2005, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283662 |
- |
PubMed: Maxwell 2002, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283664 |
- |
PubMed: Bean 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283665 |
- |
PubMed: Thoms 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283666 |
- |
PubMed: Ebberink 2011, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283667 |
- |
PubMed: Richards 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283669 |
- |
PubMed: Steinberg 1993, PubMed: Bean 2013, PubMed: Reuber 1997, PubMed: Heimler 1991, PubMed: Gärtner 1992, PubMed: Steinberg 2006, PubMed: Collins 1999, PubMed: Ratbi 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283671 |
- |
PubMed: Rosewich 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283672 |
- |
PubMed: Walter 2001, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
? |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283673 |
- |
PubMed: Ebberink 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283675 |
- |
PubMed: Steinberg 1993, PubMed: Tamura 1998, PubMed: Tamura 2001 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283676 |
- |
PubMed: Ebberink 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283677 |
- |
PubMed: Reuber 1997 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283678 |
- |
PubMed: Ebberink 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283679 |
- |
PubMed: Bean 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283680 |
- |
, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283681 |
- |
PubMed: Tamura 2001, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
? |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283682 |
- |
PubMed: Ebberink 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283683 |
- |
PubMed: Ebberink 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283684 |
- |
PubMed: Rosewich 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283685 |
Pat716 |
PubMed: Yik 2009 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
2 |
1 |
Global Variome, with Curator vacancy |
00283686 |
- |
PubMed: Walter 2001, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
? |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283687 |
- |
, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283689 |
- |
PubMed: Steinberg 1993, PubMed: Ebberink 2011, |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283694 |
- |
PubMed: Ebberink 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283696 |
- |
PubMed: Steinberg 1993, PubMed: Ebberink 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283697 |
- |
PubMed: Thoms 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283698 |
- |
PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283699 |
- |
PubMed: Ebberink 2011, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283700 |
- |
PubMed: Ebberink 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283702 |
- |
, PubMed: Ratbi 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283704 |
- |
PubMed: Bean 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283706 |
- |
PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Ebberink 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283709 |
- |
PubMed: Sun 2013, PubMed: Steinberg 1993, |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283710 |
- |
PubMed: Tamura 2001, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283711 |
- |
PubMed: Thoms 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283712 |
- |
PubMed: Bean 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283713 |
- |
PubMed: Richards 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283714 |
- |
PubMed: Rosewich 2005, PubMed: Steinberg 1993, |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283715 |
- |
PubMed: Ebberink 2011, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283716 |
- |
PubMed: Ebberink 2011, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283717 |
- |
, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283718 |
- |
PubMed: Sun 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283719 |
- |
, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283721 |
- |
PubMed: Fromer 2014 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
? |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283723 |
- |
PubMed: Bean 2013 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283724 |
- |
PubMed: Rosewich 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283725 |
- |
PubMed: Thoms 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283726 |
- |
PubMed: Ebberink 2011, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283727 |
Pat707 |
PubMed: Yik 2009 |
- |
- |
- |
United States |
- |
- |
0 |
- |
- |
PBD |
- |
2 |
1 |
Global Variome, with Curator vacancy |
00283728 |
- |
PubMed: Thoms 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283729 |
- |
PubMed: Ebberink 2011, PubMed: Xiong 2015 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283730 |
- |
PubMed: Thoms 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00283733 |
- |
PubMed: Steinberg 1993, PubMed: Ebberink 2011 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PBD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00289016 |
Fam23P27 |
PubMed: Karali 2019, Journal: Karali 2019 |
- |
F |
no |
Italy |
- |
- |
0 |
- |
- |
retinal disease |
RP, night blindness, pericentral field loss |
2 |
1 |
Sandro Banfi |