All individuals with variants in gene RPGRIP1L

54 entries on 1 page. Showing entries 1 - 54.
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VIP     
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00000028 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00028920 1-64 Pat9 PubMed: Kroes 2016 - - - - Europe-N - - - - JBTS1 - 1 1 Sanne Savelberg
00028924 1-52 Pat13 PubMed: Kroes 2016 - - - - Europe-N - - - - JBTS1 - 1 1 Sanne Savelberg
00028947 1-39 Pat17 PubMed: Kroes 2016 - - - - Europe-N - - - - JBTS1 - 2 1 Sanne Savelberg
00033105 - - - M - - - - - - - retinal disease - 2 1 Kornelia Neveling
00033338 - - - - - Saudi Arabia - - - - - JBTS1 - 2 1 Anas M Alazami
00291487 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 18 Mohammed Faruq
00291488 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 32 Mohammed Faruq
00291489 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 243 Mohammed Faruq
00304517 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 7 Mohammed Faruq
00331556 10DG0650 , 10DG0651, 10DG0652 PubMed: Maddirevula 2018 family, 3 affected (2F, M) F;M yes - Arab - - - - skeletal dysplasia Global developmental delay, Polyhydramnios, Decreased fetal movement, Generalized hy Yes 1 3 LOVD
00332196 JB38 PubMed: Bryant 2018 - - - United States - - - - - retinal disease - 1 1 LOVD
00332218 JB43 PubMed: Bryant 2018 - - - United States - - - - - retinal disease - 2 1 LOVD
00332225 JB40 PubMed: Bryant 2018 - - - United States - - - - - retinal disease - 3 1 LOVD
00358863 Fam23 PubMed: Suzuki 2016 - - no Japan - - - - - JBTS severe intellectual disability; severe developmental delay; hypotonia, ataxia, neonatal dysregulated breathing; no retina problems; no coloboma; kidney problems; no liver symptoms; encephalocele; no polydactyly 2 1 LOVD
00358868 Fam30 PubMed: Suzuki 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - JBTS severe intellectual disability; severe developmental delay; hypotonia, ataxia; no retina problems; no coloboma; no kidney problems; liver symptoms; no encephalocele; no polydactyly 2 1 LOVD
00372307 UW004-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 2 1 LOVD
00372308 UW004-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 2 1 LOVD
00372309 UW015-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 2 1 LOVD
00372310 UW042-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00372311 UW043-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00372312 UW227-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 2 1 LOVD
00372313 UW242-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00372314 UW299-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 2 1 LOVD
00372315 UW314-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 2 1 LOVD
00373384 1-54 PubMed: Kroes 2016 - - - - Europe-N - - - - retinal disease see paper; ... 1 1 LOVD
00375425 RP#019 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00377690 360 PubMed: Brooks 2018 family 77 M - United States - - - - - retinal disease polydactyly, kidney disease, oculomotor apraxia, strabismus, ptosis, coloboma - retina, optic nerve 3 1 LOVD
00377759 - PubMed: Otto 2011 - - - United Kingdom (Great Britain) - - - - - retinal disease - 1 1 LOVD
00377760 - PubMed: Otto 2011 - - - United Kingdom (Great Britain) - - - - - retinal disease polydactyly 1 1 LOVD
00377767 - PubMed: Otto 2011 - - - Germany - - - - - retinal disease mental retardation 1 1 LOVD
00377782 - PubMed: Otto 2011 - - - Poland - - - - - retinal disease - 1 1 LOVD
00377919 - PubMed: Chaki 2011 two siblings 15y and 17 years - - - - - - - - retinal disease mental retardation and oculomotor apraxia-type Cogan 1 1 LOVD
00379583 - PubMed: alazami-2012 - - - Saudi Arabia - - - - - retinal disease - 1 3 LOVD
00381159 - PubMed: Nishiguchi-2013 - F yes - Japanese - - - - retinal disease - 1 1 Julia Lopez
00381163 - PubMed: Nishiguchi-2013 - F yes - Japanese - - - - retinal disease - 1 1 Julia Lopez
00388076 360 PubMed: Summers 2017 - - - United States - - - - - retinal disease - 3 1 LOVD
00399818 904 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - NPHP - 2 1 Johan den Dunnen
00399819 597 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - NPHP - 1 1 Johan den Dunnen
00408092 141 PubMed: Alabdullatif 2017 - F yes United Arab Emirates - - - - - retinal disease 1.5 year old girl with uncomplicated perinatal course who was noticed to have abnormal eye movement at the age of 4 months and was diagnosed to have oculomotor apraxia. She also had developmental delay, hepatomegaly, and hypotonia. Parents were cousins and she has 4 healthy siblings. 1 1 LOVD
00408797 JS_F1 PubMed: Alazami 2012 - M yes - - - - - - JBTS prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic fibrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, ataxia, hypotonia, no occipital meningocele, typical magnetic resonance find 1 1 LOVD
00414705 NA01899 PubMed: Bell 2011 - ? - - - - - - - retinal disease - 1 1 LOVD
00443511 F1MKS03/107 PubMed: Delous 2007 family, 2 affected fetuses - yes Morocco - <00y00m00d - - - MKS see paper; ..., 15gw-anencephaly phenotype, occipital encephalocele, cystic kidney dysplasia, bile duct proliferation, postaxial polydactyly (upper limbs), cleft lip, cleft palate, microphthalmia 1 2 Johan den Dunnen
00443512 F1MKS04/428 PubMed: Delous 2007 2nd fetus - yes Morocco - <00y00m00d - - - MKS see paper; ..., 15wg-anencephaly phenotype, occipital encephalocele, cystic kidney dysplasia, bile duct proliferation, postaxial polydactyly (upper limbs, lower limbs), cleft lip, cleft palate, microphthalmia, long bones bowing 1 1 Johan den Dunnen
00443513 F2MKS05/206 PubMed: Delous 2007 fetus - no France - - - - - MKS see paper; ..., 15wg-anencephaly phenotype, occipital encephalocele, cystic kidney dysplasia, bile duct proliferation, postaxial polydactyly (upper limbs), cleft lip, cleft palate, microphthalmia, long bones bowing 2 1 Johan den Dunnen
00443514 F222-1 PubMed: Delous 2007 - - - France - - - - - JBTS see paper; ..., 6y-end-stage renal disease, nephronophthisis, cerebellar ataxia, severe intellectual disability, oculomotor apraxia, ptosis, genu valgum 2 1 Johan den Dunnen
00443516 F58-1 PubMed: Delous 2007 - - - France - - - - - JBTS see paper; ..., 7y-end-stage renal disease, nephronophthisis, cerebellar ataxia, severe intellectual disability, oculomotor apraxia, ptosis, molar tooth sign, scoliosis 2 1 Johan den Dunnen
00443517 F42-1 PubMed: Delous 2007 family, 2 affected - - France - - - - - JBTS see paper; ..., 9y-end-stage renal disease, nephronophthisis, cerebellar ataxia, no intellectual disability, oculomotor apraxia, nystagmus, molar tooth sign, scoliosis 1 2 Johan den Dunnen
00443518 F42-2 PubMed: Delous 2007 2nd affected - - France - - - - - JBTS see paper; ..., 8y-end-stage renal disease, nephronophthisis, cerebellar ataxia, moderate intellectual disability, oculomotor apraxia, nystagmus, molar tooth sign, scoliosis 1 1 Johan den Dunnen
00443519 F491-1 PubMed: Delous 2007 - - - Comoros - - - - - JBTS see paper; ..., chronic renal insufficiency, cystic kidney disease, cerebellar ataxia, moderate intellectual disability, retinitis pigmentosa, no molar tooth sign, precocious puberty 1 1 Johan den Dunnen
00443520 F126-1 PubMed: Delous 2007 - - - France - - - - - JBTS see paper; ..., 18y-end-stage renal disease, nephronophthisis, cerebellar ataxia, moderate intellectual disability, oculomotor apraxia, ptosis, nystagmus, molar tooth sign, partial GH deficiency 1 1 Johan den Dunnen
00447445 USHII-369 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 2 1 Johan den Dunnen
00447612 SRP-1205 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 2 1 Johan den Dunnen
00454834 Pat8 PubMed: Dekker 2023 fetus M no Netherlands - - - - - NDD see paper; ..., termination of pregnancy 15w0/7 encephalocele, hydronephrosis, polydactyly; MRI brain two atypical encephaloceles 1 1 Johan den Dunnen
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