Disease #00381 (RD (dystrophy, retinal (RD)))

Official abbreviation RD
Name dystrophy, retinal (RD)
OMIM ID -
Inheritance -
Individuals reported having this disease 277
Phenotype entries for this disease 210
Associated with 2 genes C19orf44, UBAP1L
Associated tissues -
Disease features -
Remarks -
Date created 2014-05-09 11:59:52 +02:00 (CEST)
Date last edited 2015-12-07 07:11:25 +01:00 (CET)


Individuals

277 entries on 3 pages. Showing entries 1 - 100.
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00016582 - PubMed: Sergouniotis 2014 4-generation family, 1 affected, unaffected carrier parents M yes - European - - - - RD central and peripheral cone dysfunction with preservation of rod photoreceptor function TBX15, TTLL5, ZC3HAV1 TBX15, TTLL5, ZC3HAV1 3 1 Marianne Vos (LOVD-team)
00016583 - PubMed: Sergouniotis 2014 5-generation family, 1 affected, unaffected carrier parents M yes - European - - - - RD emmetropia, undetectable PERGs, borderline DA ERGs, subnormal LA ERGs TTLL5 TTLL5 2 1 Marianne Vos (LOVD-team)
00016584 - PubMed: Sergouniotis 2014 4-generation family, 2 affected brothers (CD3/CD4), unaffected carrier parents and sibling M yes - European - - - - RD more severe phenotype with poor vision from the first years of life, severe generalized cone-system dysfunction, and additional significant involvement of rod photoreceptors. FHL2, TTLL5, ZKSCAN4 FHL2, TTLL5, ZKSCAN4 3 1 Marianne Vos (LOVD-team)
00016585 - PubMed: Sergouniotis 2014 3-generation family, 1 affected, unaffected carrier parents M ? - European - - - - RD central and peripheral cone dysfunction with preservation of rod photoreceptor function TTLL5 TTLL5 1 1 Marianne Vos (LOVD-team)
00033354 - PubMed: Abu-Safieh-2013 - - - - - - - - - RD - RPGRIP1 RPGRIP1 2 1 Leen Abu Safieh
00038104 - PubMed: Tosi 2009 - M ? - ? - - - - RD early-onset retinal dystrophy, horizontal sensory nystagmus, slightly pale optic nerves, macular atrophy, and nummular pigment clumping in both eyes, diffuse drusen like deposits in the posterior pole, abnormal inner retinal lamination and loss of photoreceptors, extinguished ERG CRB1 CRB1 2 2 Frans Cremers
00038105 - PubMed: Tosi 2009 - F ? - ? - - - - RD early-onset retinal dystrophy, horizontal sensory nystagmus, optic nerve pallor, macular atrophy, and peripheral intraretinal pigment migration less severe than her brother CRB1 CRB1 2 2 Frans Cremers
00038137 - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - RD early-onset retinal dystrophy, bilateral visual loss before the age of 6 months, nystagmus, undetectable or significantly reduced ERG CRB1 CRB1 2 2 Frans Cremers
00038138 - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - RD early-onset retinal dystrophy, bilateral visual loss before the age of 6 months, nystagmus, undetectable or significantly reduced ERG CRB1 CRB1 2 2 Frans Cremers
00038139 - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - RD early-onset retinal dystrophy, bilateral visual loss before the age of 6 months, nystagmus, undetectable or significantly reduced ERG CRB1 CRB1 2 1 Frans Cremers
00038140 - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - RD early-onset retinal dystrophy, bilateral visual loss before the age of 6 months, nystagmus, undetectable or significantly reduced ERG CRB1 CRB1 2 1 Frans Cremers
00038141 - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - RD early-onset retinal dystrophy, bilateral visual loss before the age of 6 months, nystagmus, undetectable or significantly reduced ERG CRB1 CRB1 2 1 Frans Cremers
00038142 - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - RD early-onset retinal dystrophy, bilateral visual loss before the age of 6 months, nystagmus, undetectable or significantly reduced ERG CRB1 CRB1 2 1 Frans Cremers
00038204 - PubMed: Paun 2012 - ? ? Turkey Turkish - - - - RD Atrophy of the retina outside of the fovea, spots of hyperpigmentation, optic disc drusen, intraretinal macular edema CRB1 CRB1 2 1 Frans Cremers
00038209 - PubMed: Jalkh 2014 3 generation family, 8 affected M no Lebanon Lebanese - - - - RD ? CRB1 CRB1 2 8 Frans Cremers
00038210 - PubMed: Jalkh 2014 3 generation family, 8 affected M no Lebanon Lebanese - - - - RD ? CRB1 CRB1 2 8 Frans Cremers
00038211 - PubMed: Jalkh 2014 3 generation family, 8 affected M no Lebanon Lebanese - - - - RD ? CRB1 CRB1 2 8 Frans Cremers
00038214 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 1 1 Frans Cremers
00038215 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038216 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038217 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038218 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038219 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038220 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038221 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038222 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038223 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038224 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 1 1 Frans Cremers
00038228 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038229 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038230 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038231 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038232 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038233 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038235 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038236 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038237 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038240 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038245 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038246 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038247 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038249 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038251 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038253 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038254 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038255 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038256 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038257 - PubMed: Corton 2013 - ? ? Spain Spanish - - - - RD early-onset retinal dystrophy CRB1 CRB1 2 1 Frans Cremers
00038298 - PubMed: Li 2014 - M ? China Chinese - - - - RD Generalized retinal dystrophy, macular nummular pigmentation, yellowish crystalline-like spots in midperipheral retina, bone-spicule pigmentation at mid-peripheral retina, non-detectable ERG CRB1 CRB1 2 1 Frans Cremers
00038299 - PubMed: Li 2014 - M ? China Chinese - - - - RD Generalized retinal dystrophy, bone-spicule pigmentation at mid-peripheral retina CRB1 CRB1 2 1 Frans Cremers
00038300 - PubMed: Li 2014 - M ? China Chinese - - - - RD Generalized retinal dystrophy, non-detectable ERG CRB1 CRB1 2 1 Frans Cremers
00038301 - PubMed: Li 2014 - F ? China Chinese - - - - RD Generalized retinal dystrophy, bone-spicule pigmentation at mid-peripheral retina, non-detectable rod ERG and reduced cone ERG CRB1 CRB1 2 1 Frans Cremers
00038302 - PubMed: Li 2014 - M ? China Chinese - - - - RD Generalized retinal dystrophy, macular nummular pigmentation, yellowish crystalline-like spots in midperipheral retina, bone-spicule pigmentation at mid-peripheral retina, non-detectable ERG CRB1 CRB1 2 1 Frans Cremers
00038303 - PubMed: Li 2014 - M ? China Chinese - - - - RD Generalized retinal dystrophy, non-detectable ERG CRB1 CRB1 2 1 Frans Cremers
00038304 - PubMed: Li 2014 - F ? China Chinese - - - - RD Generalized retinal dystrophy, macular nummular pigmentation, bone-spicule pigmentation at mid-peripheral retina, non-detectable rod ERG and reduced cone ERG CRB1 CRB1 2 1 Frans Cremers
00038307 - PubMed: Yang 2014 - M ? China Chinese - - - - RD Attenuation of retinal arterioles, numerous pigment deposits, and RPE degeneration mainly in the temporal quadrant and the posterior pole CRB1 CRB1 2 3 Frans Cremers
00038308 - PubMed: Yang 2014 - F ? China Chinese - - - - RD Attenuation of retinal arterioles, numerous pigment deposits, and RPE degeneration mainly in the temporal quadrant and the posterior pole CRB1 CRB1 2 3 Frans Cremers
00038309 - PubMed: Yang 2014 - F ? China Chinese - - - - RD Attenuation of retinal arterioles, numerous pigment deposits, and RPE degeneration mainly in the temporal quadrant and the posterior pole CRB1 CRB1 2 3 Frans Cremers
00038310 - PubMed: Yang 2014 - M ? China Chinese - - - - RD ? CRB1 CRB1 2 1 Frans Cremers
00038311 - PubMed: Yang 2014 - F ? China Chinese - - - - RD ? CRB1 CRB1 2 2 Frans Cremers
00038312 - PubMed: Yang 2014 - M ? China Chinese - - - - RD ? CRB1 CRB1 2 1 Frans Cremers
00038319 - PubMed: Kuniyoshi 2015 - M ? Japan Japanese - - - - RD early-onset retinal dystrophy, night blindness since infancy, de-pigmentation of the retinal pigment epithelium in the mid-periphery, ERGs were reduced, scotomas in the mid-periphery, numerous clumped pigments in the mid-periphery of the retina, bone-spicule pigmentation CRB1 CRB1 2 1 Frans Cremers
00052413 - PubMed: Mo 2014 2-generation family, 1 affected F no China Chinese - - - - RD retinal dystrophy, early-onset, severe; mildly attenuated retinal vessels, some whitish dots, and numerous grayish deposits in the mid-peripheral retina RPE65 RPE65 2 1 Muhammad Ajmal
00052441 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - - - - RD retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor RPE65 RPE65 1 1 Muhammad Ajmal
00052442 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - - - - RD retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor RPE65 RPE65 1 1 Muhammad Ajmal
00052443 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - - - - RD retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor RPE65 RPE65 1 1 Muhammad Ajmal
00052444 - PubMed: Kabir 2013 - M yes Pakistan Pakistani - - - - RD retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor RPE65 RPE65 1 1 Muhammad Ajmal
00052449 - PubMed: Kabir 2013 - M yes Pakistan Pakistani - - - - RD retinal dystrophy RPE65 RPE65 1 1 Muhammad Ajmal
00052450 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - - - - RD retinal dystrophy RPE65 RPE65 1 1 Muhammad Ajmal
00052451 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - - - - RD retinal dystrophy RPE65 RPE65 1 1 Muhammad Ajmal
00052488 - PubMed: Li 2009 - M yes Saudi Arabia Arab - - - - RD retinal dystrophy; clear lenses, hypermetropic, syneresis of vitreous, microrotatory infantile nystagmus, vertically oval discs, mild optic atrophy, vascular attenuation, peripheral pigmentation and no bone spicules, nonrecordable ERG RPE65 RPE65 1 1 Muhammad Ajmal
00052489 - PubMed: Li 2009 - M yes Saudi Arabia Arab - - - - RD retinal dystrophy; mild enophthalmos, clear lenses, clear vitreous, vertically oval discs, slightly hyperopic optic nerve fullness, decreased retinal light reflexes, minimal peripheral pigment changes, infantile nystagmus, nonrecordable ERG RPE65 RPE65 1 1 Muhammad Ajmal
00052490 - PubMed: Li 2009 - F yes Saudi Arabia Arab - - - - RD retinal dystrophy; enophthalmos, nystagmus, clear lenses, minimal peripheral pigmentary changes, decreased foveal light reflexes, hyperopic full discs and mild hyperemia, minimal astigmatism, nonrecordable ERG RPE65 RPE65 1 1 Muhammad Ajmal
00052491 - PubMed: Li 2009 - M yes Saudi Arabia Arab - - - - RD retinal dystrophy; micronystagmus, pigmentary granular dystrophy, foveal atrophy, disc atrophy, widespread vascular attenuation and grainy midperiphery RPE65 RPE65 1 1 Muhammad Ajmal
00052492 - PubMed: Li 2009 - F yes Saudi Arabia Arab - - - - RD retinal dystrophy; micronystagmus, spared macula, disc atrophy, vascular attenuation, sandy RPE degeneration from inside the arcade to the periphery RPE65 RPE65 1 1 Muhammad Ajmal
00052493 - PubMed: Li 2009 - M yes Saudi Arabia Arab - - - - RD retinal dystrophy; no nystagmus, vascular attenuation, disc pallor, midperiphery sandy depigmentation, night blindness RPE65 RPE65 1 1 Muhammad Ajmal
00052494 - PubMed: Li 2009 - M yes Saudi Arabia Arab - - - - RD retinal dystrophy; disc pallor, vessels attenuated, nonrecordable ERG RPE65 RPE65 1 1 Muhammad Ajmal
00052495 - PubMed: Li 2009 - F yes Saudi Arabia Arab - - - - RD retinal dystrophy; non-recordable ERG, disc pallor, neuroepithelial atrophy, nystagmus RPE65 RPE65 1 1 Muhammad Ajmal
00052515 FamFPatFT PubMed: Lorenz 2004 family, 1 affected, unaffected heterozygous carrier parents M ? France ? - - - - RD retinal dystrophy, early-onset, severe; no light perception, optic disc atrophy, widespread RPE defects/atrophy, no nystagmus, photophobia RPE65 RPE65 2 1 Muhammad Ajmal
00052516 Fam1PatII2/CPatCY PubMed: Hamel 2001, PubMed: Lorenz 2004 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F ? France ? - - - - RD retinal dystrophy, early-onset, severe; hand motion, emmetropia, large central irregular RPE defect, nystagmus, photophobia, midperiphery RPE thinning and mottling with silvery reflex RPE65 RPE65 2 2 Muhammad Ajmal
00052517 Fam1PatII3/CPatCG PubMed: Lorenz 2004 brother M ? France ? - - - - RD retinal dystrophy, early-onset, severe; large central irregular RPE defect, nystagmus, photophobia, midperiphery RPE thinning and mottling with silvery reflex RPE65 RPE65 2 1 Muhammad Ajmal
00052518 FamKPatKM PubMed: Lorenz 2004, PubMed: Paunescu 2004 generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F ? France ? - - - - RD retinal dystrophy, early-onset, severe; light perception to hand motion, myopic astigmatism, central patch of dark RPE, periphery spotty RPE clumping and thinning, nystagmus, photophobia RPE65 RPE65 1 3 Muhammad Ajmal
00052519 FamKPatKE PubMed: Lorenz 2004, PubMed: Paunescu 2004 brother M ? France ? - - - - RD retinal dystrophy, early-onset, severe; light perception to hand motion, myopic astigmatism, periphery spotty RPE clumping, widespread RPE thinning, nystagmus, photophobia RPE65 RPE65 1 1 Muhammad Ajmal
00052520 FamKPatKG PubMed: Lorenz 2004, PubMed: Paunescu 2004 brother M ? France ? - - - - RD retinal dystrophy, early-onset, severe; myopia, no central reflexes, spotty RPE clumping, circular patches of RPE atrophy, nystagmus, photophobia RPE65 RPE65 1 1 Muhammad Ajmal
00052521 - PubMed: Poehner 2000 - F yes Italy Italian - - - - RD retinal dystrophy; no light perception, nystagmus, strabismus, cortical and posterior subcapsular cataract, chorioretinal atrophy, attenuated retinal vessels, pale optic disc, myopia and stigmatism, nondetectable ERG RPE65 RPE65 1 1 Muhammad Ajmal
00052522 - PubMed: Poehner 2000 - M yes Italy Italian - - - - RD retinal dystrophy; light perception, nystagmus, exotropia, cortical and posterior subcapsular cataract, attenuated retinal vessels, pale optic disc, myopia and astigmatism, nondetectable ERG RPE65 RPE65 1 1 Muhammad Ajmal
00052523 - PubMed: Poehner 2000 - F yes Italy Italian - - - - RD retinal dystrophy; light perception RPE65 RPE65 1 1 Muhammad Ajmal
00052527 - PubMed: Thompson 2002 - M ? - ? - - - - RD retinal dystrophy; severe visual loss and nystagmus RPE65 RPE65 2 1 Muhammad Ajmal
00052555 - PubMed: Weleber 2011 - F ? - ? - - - - RD retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time RPE65 RPE65 2 1 Muhammad Ajmal
00052556 - PubMed: Weleber 2011 - M ? - ? - - - - RD retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time RPE65 RPE65 2 1 Muhammad Ajmal
00052557 - PubMed: Weleber 2011 - M ? - ? - - - - RD retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time RPE65 RPE65 2 1 Muhammad Ajmal
00052558 - PubMed: Weleber 2011 - F ? - ? - - - - RD retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time RPE65 RPE65 2 1 Muhammad Ajmal
00052559 - PubMed: Weleber 2011 - F ? - ? - - - - RD retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time RPE65 RPE65 1 1 Muhammad Ajmal
00052615 - PubMed: Bereta 2008 - ? no - - - - - - RD retinal dystrophy RPE65 RPE65 1 1 Muhammad Ajmal
00052621 - PubMed: Lorenz 2008 3-generation family, 1 affected M yes - ? - - - - RD retinal dystrophy, early-onset, severe; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time RPE65 RPE65 1 1 Muhammad Ajmal
00052705 - PubMed: Yzer 2003 2-generation family, 2 affected M yes Netherlands Dutch, NW - - - - RD retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus RPE65 RPE65 1 1 Muhammad Ajmal
00052706 - PubMed: Yzer 2003 2-generation family, 2 affected F yes Netherlands Dutch, NW - - - - RD retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus RPE65 RPE65 1 1 Muhammad Ajmal
00052707 - PubMed: Yzer 2003 2-generation family, 1 affected F no Netherlands Dutch, NW - - - - RD retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus RPE65 RPE65 1 1 Muhammad Ajmal
00052708 - PubMed: Yzer 2003 2-generation family, 3 affected M no Netherlands Dutch, NW - - - - RD retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus RPE65 RPE65 1 3 Muhammad Ajmal
00052709 - PubMed: Yzer 2003 2-generation family, 3 affected M yes Netherlands Dutch, NW - - - - RD retinal dystrophy, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus RPE65 RPE65 1 3 Muhammad Ajmal
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