Disease #05076

Official abbreviation RP-72
Name retinitis pigmentosa, type 72 (RP-72)
OMIM ID 616469
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 0
Associated with 1 gene ZNF408
Associated tissues -
Disease features -
Remarks autosomal recessive


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00263908 RP-0332 II:1 PubMed: Avila-Fernandez 2015 2-generation family, 2 affected (siblings) F ? Spain - - 0 - - RP, RP-72 retinitis pigmentosa (HP:0000510), night blindness (HP:0000662), retinal pigment epithelium atrophy (HP:0007791), photophobia (HP:0000613), visual field loss (HP:0007994), posterior subcapsular cataract (HP:0007787) ZNF408 ZNF408 1 2 Jasmine Chen
00263960 RP-0332 II:2 PubMed: Avila-Fernandez 2015 2 generation family, 2 affected (siblings) F ? Spain - - 0 - - RP, RP-72 retinitis pigmentosa (HP:0000510), night blindness (HP:0000662), progressive loss of visual acuity (HP:0000529), photophobia (HP:0000613), visual field loss (HP:0007994), posterior subcapsular cataract (HP:0007787) ZNF408 ZNF408 1 1 Jasmine Chen
00263961 RP-0976 II:2 PubMed: Avila-Fernandez 2015 3 generation family, 1 affected M yes Spain - - 0 - - RP, RP-72 retinitis pigmentosa (HP:0000510), field constriction (HP: 0007994), atrophy of retinal pigment epithelium (HP:0007722), high myopia (HP:0011003) ZNF408 ZNF408 1 1 Jasmine Chen
00263962 Individual 3 PubMed: Avila-Fernandez 2015 - ? ? Spain - - 0 - - RP, RP-72 retinitis pigmentosa (HP:0000510) ZNF408 ZNF408 1 1 Jasmine Chen
00263963 Individual 4 PubMed: Avila-Fernandez 2015 - ? ? Spain - - 0 - - RP, RP-72 retinitis pigmentosa (HP: 0000510) ZNF408 ZNF408 1 1 Jasmine Chen
00264051 Habibi 2017 Patient IV:1 PubMed: Habibi 2017 4 generation family, 3 affected F yes Tunisia - - 0 - - RP, RP-72 retinitis pigmentosa (HP: 0000510), macular oedema (HP:0040049), cataract (HP:0000518), high myopia (HP:0011003) - ZNF408 1 3 Jasmine Chen
00264052 Habibi 2017 Patient IV:2 PubMed: Habibi 2017 PatIV2 F yes Tunisia - - 0 - - RP, RP-72 retinitis pigmentosa (HP:0000510), cataract (HP:0000518), high myopia (HP:0011003) - ZNF408 1 1 Jasmine Chen
00264053 Habibi 2017 Patient IV:4 PubMed: Habibi 2017 PatIV4 F yes Tunisia - - 0 - - RP, RP-72 retinitis pigmentosa (HP:0000510), high myopia (HP:0011003), cataract (HP:0000518) - ZNF408 1 1 Jasmine Chen
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