Disease #05075

Official abbreviation EVR-6
Name vitreoretinopathy, exudative, type 6 (EVR-6)
OMIM ID 616468
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 6
Phenotype entries for this disease 0
Associated with 1 gene ZNF408
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Disease features -
Remarks -


Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00263971 W05-215 III:5 PubMed: Collin 2013 5-generation family, 12 affected M no Netherlands - - 0 - diathermy EVR-6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), left eye retinal detachment (HP:0000541), - PASK, ZNF408 2 12 Jasmine Chen
00263981 W05-215 V:2 PubMed: Collin 2013 PatV2 F no Netherlands - - 0 - - EVR-6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), left eye falciform retinal fold (HP:0001493) PASK, ZNF408 PASK, ZNF408 2 1 Jasmine Chen
00264047 W05-220 IV:3 PubMed: Collin 2013 5 generation family, 2 affected; related to family W05-215 of same study by common ancestor M no Netherlands - - 0 - - EVR-6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490) PASK, ZNF408 ZNF408 1 2 Jasmine Chen
00264048 W05-220 V:2 PubMed: Collin 2013 PatV2 M no Netherlands - - 0 - - EVR-6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), horizontal nystagmus (HP:0000666) PASK, ZNF408 ZNF408 1 1 Jasmine Chen
00264049 F117 II:2 PubMed: Collin 2013 2 generation family, 2 affected M no Japan - - 0 - laser photocoagulation EVR-6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), retinal hole (HP:0011530) ZNF408 ZNF408 1 2 Jasmine Chen
00264050 F117 I:1 PubMed: Collin 2013 PatI1 M no Japan - - 0 - - EVR-6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), exudative retinal detachment (HP:0012231), ZNF408 ZNF408 1 1 Jasmine Chen
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