All individuals with variants in gene NPHP4

70 entries on 1 page. Showing entries 1 - 70.
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00000014 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000024 - PubMed: Bell 2011 - - - - - - - - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000039 - PubMed: Bell 2011 - - - - - - - - - ADPKD - 1 1 Global Variome, with Curator vacancy
00000041 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000042 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000049 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000075 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00001821 - - - - - (United States) - - - - - RP - 2 1 Feng Wang
00033170 - - - F - - - - - - - retinal disease retinal degeneration, severe, early onset (EOSRD) 2 1 Kornelia Neveling
00081376 - Kay, submitted EJHG - - - Peru - - - - - HD - 1 1 Chris Kay
00081379 - Kay, submitted EJHG - - - Peru - - - - - HD - 1 1 Chris Kay
00155506 - Sharon, submitted - M no Israel Yemenite;Jewish - - - - SLSN - 1 1 Dror Sharon
00289404 Pat22 PubMed: Barbosa 2020 - M - - - - - - - NDD first smile 21m; sit not achieved, walk not achieved; no speech; severe learning difficulties; language delay no language development; language delay; OFC -4.6 SD 1 1 Johan den Dunnen
00302699 P23 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - M yes Oman - - - - - PKD - 1 1 Intisar Al Alawi
00302712 P40 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - M yes Oman - - - - - PKD - 1 1 Intisar Al Alawi
00309245 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00328507 15001053 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - - - - retinal disease retinal dystrophy (HP:0000556), nephronophthisis (HP:0000090) 2 1 LOVD
00335979 - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - retinal disease - 1 1 LOVD
00358977 Case25939 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00373849 Rp131 PubMed: Zhao 2015 simplex case - - Northern Ireland - - - - - retinal disease see paper; ... 2 1 LOVD
00375426 RP#020 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00377748 - PubMed: Otto 2011 heterozygous mutation identified in father - - Germany - - - - - retinal disease - 2 1 LOVD
00377749 - PubMed: Otto 2011 - - - Belgium - - - - - retinal disease - 2 1 LOVD
00377779 - PubMed: Otto 2011 - - no Germany - - - - - retinal disease - 1 1 LOVD
00377780 - PubMed: Otto 2011 - - yes - Arab - - - - retinal disease - 1 1 LOVD
00377915 - PubMed: Chaki 2011 - - - - - - - - - retinal disease mental retardation. 1 1 LOVD
00380138 13DG0528 PubMed: Patel 2018 - - yes Saudi Arabia - - - - - retinal disease stage 5 chronic kidney disease 1 1 LOVD
00380358 - PubMed: M'hamdi_2014 - F yes Tunisia Tunisian - - - - retinal disease retinitis pigmentaria 1 1 LOVD
00381728 - PubMed: Wang-2014 - - no - - - - - - retinal disease - 2 1 LOVD
00385231 - PubMed: Redin-2012 - - - - Melanesian - - - - retinal disease - 1 1 LOVD
00385254 - PubMed: Redin-2012 - - - Tunisia - - - - - retinal disease - 1 1 LOVD
00385255 - PubMed: Redin-2012 - - - Tunisia - - - - - retinal disease - 1 1 LOVD
00385285 - PubMed: M'hamdi-2014 - F yes Tunisia Tunisian - - - - retinal disease obesity, retinitis pigmentosa, polydactyly, hypogenitalism,mental retardation 1 1 LOVD
00385949 - PubMed: Gonzalez-del Pozo-2013 - M - Spain spanish - - - - retinal disease Night blindness, retinitis pigmentosa, postaxial polydactyly both feet, Obese, learning disabilities, kidney cysts, kidney transplant, poor coordination 1 1 LOVD
00390811 - PubMed: Khateb-2016 two siblings affected by Senior–Loken syndrome due to a combined diagnosis of early-onset RP and renal failure, which resulted in kidney transplantation at the age of 35 years in both patients - - - Arab/ Muslim - - - - retinal disease - 1 2 LOVD
00391386 54 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - retinal disease diagnosis unsure 1 1 LOVD
00391730 117 PubMed: Sallum 2020 - ? - Brazil - - - - - retinal disease best corrected visual acuity right/left eye: counting fingers 2 1 LOVD
00391752 137 PubMed: Sallum 2020 - ? - Brazil - - - - - retinal disease best corrected visual acuity right/left eye: hand movement 3 1 LOVD
00395611 RP-2997 PubMed: Perea-Romero 2021 - - - Spain - - - - - retinal disease dyschromatopsia, photophobia, rod-cone dystrophy, hypertension, chronic kidney disease, renal cystrenal transplant 1 1 LOVD
00397661 F848 (II-1) PubMed: Helou 2008 - - no Italy - - - - - retinal disease tapetoretinal degeneration (vision 1/10 at 44) 1 1 LOVD
00398528 Pat4 PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., severe intellectual disability; 11y-speech delay, no words; microcephaly, hypotonia, hypogonadism, myoclonus; 11y-st, 11y-not walking 1 1 Johan den Dunnen
00398529 A057 PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., moderate intellectual disability; speech delay, limited speech later in life; hyperactive 1 1 Johan den Dunnen
00398530 ON1 PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., developmental delay, mild-moderate intellectual disability; marked speech delay, 7y-partial lack of speech; hyperactivity, attention problems, self-destructing behavior; facial abnormalities 1 1 Johan den Dunnen
00398531 AU88848 PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., mild intellectual disability; 1 1 Johan den Dunnen
00398532 FTD PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., developmental delay, mild intellectual disability ; speech delay; functional heart murmur, chronic vomiting, diarrhea, urolithiasis, bilateral inguinal hernia, cryptorchidism; facial dysmorphies; paroxysmal sleep episodes; attention-deficit hyperactivity disorder, hyperactivity; EEG abnormal 1 1 Johan den Dunnen
00398533 F538 PubMed: Froyen 2012, PubMed: Moey 2015 - M - - - - - - - ID see paper; ..., moderate intellectual disability; stutter, limited speech; 1 1 Johan den Dunnen
00398534 A009/MRX17 {PMID Gedeon 1994:7943039}, PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - - - Australia - - - - - ID see paper; ..., mild intellectual disability; slow speech development; hyperactivity 1 1 Johan den Dunnen
00399816 1022 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - NPHP - 2 1 Johan den Dunnen
00399817 1019 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - NPHP - 2 1 Johan den Dunnen
00407378 F1241 PubMed: Otto 2008 - ? no Kuwait - - - - - retinal disease extrarenal manifestations: none 1 1 LOVD
00407379 F1270 PubMed: Otto 2008 - ? yes Turkey - - - - - retinal disease extrarenal manifestations: mild hearing impairment 1 1 LOVD
00407380 F1183 PubMed: Otto 2008 - ? no Sweden - - - - - retinal disease extrarenal manifestations: none 1 1 LOVD
00407381 F1322-1 PubMed: Otto 2008 two individuals from this family ? yes Pakistan - - - - - retinal disease extrarenal manifestations: short stature 1 1 LOVD
00407382 F1322-2 PubMed: Otto 2008 two individuals from this family ? yes Pakistan - - - - - retinal disease extrarenal manifestations: short stature 1 1 LOVD
00407673 K-5 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - retinal disease end-stage renal disease (years): 2.5, extra-renal manifestations: optic nerve anomaly 1 1 LOVD
00413759 Case 1 PubMed: Chan 2016 - M - - - - - - - retinal disease RP with bone spicule formation in the periphery; constricted visual fields and a generalized reduction in all amplitudes of the full-field electroretinogram. 1 1 LOVD
00418815 2_V:2 PubMed: Sellami 2006 Family 2 (article in French) (article in French) M - - - - - - - NPHP1 age at renal failure: 18y; age at end-stage renal failure: 19y; retinal dystrophy 1 1 LOVD
00418816 2_V:6 PubMed: Sellami 2006 Family 2 (article in French) (article in French) M - - - - - - - NPHP1 age at renal failure: 20y; age at end-stage renal failure: 21y; no retinal dystrophy 1 1 LOVD
00418817 2_V:7 PubMed: Sellami 2006 Family 2 (article in French) (article in French) M - - - - - - - NPHP1 age at renal failure: 19y; age at end-stage renal failure: ; no retinal dystrophy 1 1 LOVD
00418818 2_V:11 PubMed: Sellami 2006 Family 2 (article in French) (article in French) M - - - - - - - NPHP1 age at renal failure: 25y; age at end-stage renal failure: ; retinal dystrophy 1 1 LOVD
00418819 2_V:12 PubMed: Sellami 2006 Family 2 (article in French) (article in French) F - - - - - - - NPHP1 age at renal failure: 15y; age at end-stage renal failure: 15y; no retinal dystrophy 1 1 LOVD
00418820 2_V:13 PubMed: Sellami 2006 Family 2 (article in French) (article in French) M - - - - - - - NPHP1 age at renal failure: 20y; age at end-stage renal failure: 24y; no retinal dystrophy 1 1 LOVD
00418825 F1114_II-1 PubMed: Hoefele 2007 family F1114, individual II-1 M - Hungary - - - - - NPHP1 age at end-stage renal failure: 9y; extrarenal manifestations: retinitis pigmentosa 1 1 LOVD
00418827 A11_II-1 PubMed: Hoefele 2007 family A11, individual II-1 M - France - - - - - NPHP1 age at end-stage renal failure: 3y; extrarenal manifestations: liver fibrosis 1 1 LOVD
00418828 F24_II-1 PubMed: Hoefele 2007 family F24, individual II-1 F - Germany - - - - - NPHP1 extrarenal manifestations: no data available 2 1 LOVD
00418829 F24_II-2 PubMed: Hoefele 2007 family F24, individual II-2 F - Germany - - - - - NPHP1 age at end-stage renal failure: 14y; extrarenal manifestations: no data available 2 1 LOVD
00418834 F 700_II-6 PubMed: Hoefele 2007 family F 700, individual II-6 - - Turkey - - - - - NPHP1 age at end-stage renal failure: 10y; extrarenal manifestations: cerebellar vermis hypoplasia 1 1 LOVD
00418838 F 616_II-2 PubMed: Hoefele 2007 family F 616, individual II-2 - - Germany - - - - - NPHP1 age at end-stage renal failure: 14y; extrarenal manifestations: liver fibrosis 1 1 LOVD
00418839 F 800_II-1 PubMed: Hoefele 2007 family F 800, individual II-1 - - United States - - - - - NPHP1 extrarenal manifestations: infantile nephronophthisis, ocular motor apraxia, polydactyly 1 1 LOVD
00418840 F 244_II-5 PubMed: Hoefele 2007 family F 244, individual II-5 - - Morocco - - - - - NPHP1 age at end-stage renal failure: 1y; extrarenal manifestations: situs inversus, infantile nephronophthisis 1 1 LOVD
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