All individuals with variants in gene NPHP4

73 entries on 1 page. Showing entries 1 - 73.
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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
00448865 Pat478 PubMed: Fujimaru 2018, PubMed: Fujimaru 2021 - M - Japan - - - - - PKD see paper; ... 2 1 Johan den Dunnen
00465250 FamPatIV1 PubMed: Karam 2024, Journal: Karam 2024 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - NPHP see paper; ..., anemia, no facial features, mild growth retardation, no mental retardation, general weakness, renal failure, uremia, polyuria, polydipsia, renal interstitial fibrosis, no liver fibrosis, no situs inversus, no cardiac dysfunction, no ocular problems, no auditory impairments, no skeletal abnormalities, no hypertension 1 2 Johan den Dunnen
00465251 FamPatIV2 PubMed: Karam 2024, Journal: Karam 2024 sister F yes Iran - - - - - NPHP see paper; ..., anemia, no facial features, mild growth retardation, no mental retardation, general weakness, renal failure, uremia, polyuria, polydipsia, renal interstitial fibrosis, no liver fibrosis, no situs inversus, no cardiac dysfunction, no ocular problems, no auditory impairments, no skeletal abnormalities, no hypertension 1 1 Johan den Dunnen
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