All individuals with variants in gene RTN4IP1

6 entries on 1 page. Showing entries 1 - 6.
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00065277 26593267-Fam1PatII3 PubMed: Angebault 2015, Journal: Angebault 2015 2-generation family, affected sister/brother, unaffected heterozygous carrier parents, PatII3 F yes Morocco - >41y 0 - - ? Photophobia (HP:0000613), no nystagmus (-HP:0000639), Cerulean cataract (HP:0007976), moderate optic disk pallor (HP:0000543), Central scotoma (HP:0000603), Abnormality of color vision (HP:0000551), reduced flash visual evoked potentials (HP:0007928), no ataxia (-HP:0001251), no intellectual disability (-HP:0001249), no seizures (-HP:0001250) 1 2 Pieter Klap
00065278 26593267-Fam1PatII4 PubMed: Angebault 2015, Journal: Angebault 2015 brother PatII4 M yes Morocco - >52y 0 - - ? Photophobia (HP:0000613), no nystagmus (-HP:0000639), no cataract (-HP:0000518), moderate optic disk pallor (HP:0000543), no ataxia (-HP:0001251), no intellectual disability (-HP:0001249), no seizures (-HP:0001250) 1 1 Pieter Klap
00065279 26593267Fam2PatII1 PubMed: Angebault 2015, Journal: Angebault 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - (not applicable) Roma >25y 0 - - ? Photophobia (HP:0000613), no nystagmus (-HP:0000639), no cataract (-HP:0000518), severe optic disk pallor (HP:0000543), Coeco-central scotoma (HP:0000603), no ataxia (-HP:0001251), no intellectual disability (-HP:0001249), no seizures (-HP:0001250) 1 1 Pieter Klap
00065280 26593267-Fam3PatII5 PubMed: Angebault 2015, Journal: Angebault 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Roma >15y 0 - - ? no photophobia (-HP:0000613), no nystagmus (-HP:0000639), no cataract (-HP:0000518), mild optic disk pallor (HP:0000543), Blind-spot enlargment (HP:0030644), Red-green dyschromatopsia (HP:0000642), normal flash visual evoked potential (-HP:0007928), no ataxia (-HP:0001251), no intellectual disability (-HP_0001249), no seizures (-HP:0001250) 1 1 Pieter Klap
00065281 26593267-FamIVPatII2 PubMed: Angebault 2015, Journal: Angebault 2015 2-generation family, 2 sisters, unaffected heterozygous carrier parents, patII2 F no - - >14y 0 - - ? Photophobia (HP:0000613), Nystagmus (HP:0000639), no cataract (-HP:0000518), severe optic disk pallor (HP:0000543), decrease of sensitivity in the Visual field (HP:0001123), Red-green dyschromatopsia (HP:0000642), no response to flash visual evoked potentials (HP:0007928), mild ataxia (HP:0001251), intellectual disability (HP:0001249), Generalized myoclonic seizures (HP:0002123) 2 2 Pieter Klap
00065282 26593267-FamIVPatII3 PubMed: Angebault 2015, Journal: Angebault 2015 PatII3 F no - - >12y 0 - - ? Photophobia (HP:0000613), Nystagmus (HP:0000639), no cataract (-HP:0000518), severe optic disk pallor (HP:0000543), decrease of sensitivity in the Visual field (HP:0001123), Red-green dyschromatopsia (HP:0000642), no response to flash visual evoked potentials (HP:0007928), mild ataxia (HP:0001251), intellectual disability (HP:0001249), no seizures (-HP:0001250) 2 1 Pieter Klap
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