All individuals with variants in gene CEP164

22 entries on 1 page. Showing entries 1 - 22.
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00001173 - PubMed: Zafeiriou 2000 twin of 11508549-Pat.4 - ? Greece - - - - - GA1 mild pyramidal tract signs; MRI: high-signal alterations in periventricular white matter and centrum semiovale 2 1 Katrin Hinderhofer
00063834 - - - M yes Pakistan - - 0 - - BBS BBS-Like syndrome, CRD/RP, obesity, hypogonadism, intellectual disability, gynaecomastia, cerebral atrophy 1 1 Muhammad Ajmal
00063835 - - - F yes Pakistan - - 0 - - BBS BBS-Like syndrome, CRD/RP, obesity, hypogonadism, irregular menstruation, severe depression and psychosis at 26 years 1 1 Muhammad Ajmal
00079015 PKRD142;61142 PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 6-generation family, 11 affecteds (4F, 7M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - 0 - - retinal disease see paper; ..., progressive 1 11 Johan den Dunnen
00290247 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 34 Mohammed Faruq
00290248 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 156 Mohammed Faruq
00304285 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304286 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00332200 JB307 PubMed: Bryant 2018 - - - United States - - 0 - - retinal disease - 1 1 LOVD
00335964 - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - 0 - - retinal disease - 1 1 LOVD
00335965 - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - 0 - - retinal disease - 1 1 LOVD
00358972 Case70559 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00372627 RP253 PubMed: Xu 2014 patient F - China - - 0 - - retinal disease see paper; ... 2 1 LOVD
00377689 290 PubMed: Brooks 2018 family 76 F - United States - - 0 - - retinal disease liver disease, polydactyly, kidney disease, oculomotor apraxia, nystagmus, strabismus, retinal degeneration, vessel attenuation 2 1 LOVD
00386884 OGI1032_002044 PubMed: Zampaglione-2020 - ? - - - - 0 - - retinal disease - 1 1 LOVD
00386888 OGI2499_004066 PubMed: Zampaglione-2020 - ? - - - - 0 - - retinal disease - 1 1 LOVD
00386889 OGI2841_004426 PubMed: Zampaglione-2020 - ? - - - - 0 - - retinal disease - 1 1 LOVD
00386891 OGI2855_004440 PubMed: Zampaglione-2020 - ? - - - - 0 - - retinal disease - 1 1 LOVD
00386895 OGI2891_004476 PubMed: Zampaglione-2020 - ? - - - - 0 - - retinal disease - 1 1 LOVD
00401208 family PubMed: Naqvi 2022 5-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - 0 - - MCPH see paper; ..., small heads, mild-moderate intellectual disability, short stature, narrow and oval shaped faces, receding foreheads, large ears, prominent nose; attention deficit behavior, speech apraxia; never attended school; affected males spend time wandering streets, no concept of money, not able to perform any conceptual work, recognize relatives, find their way home, sense of self-respect, comfortable with strangers and are friendly 1 1 Johan den Dunnen
00412552 F05_V:2 PubMed: Maria 2016 family F05 M yes - Pakistani - 0 - - retinal disease body mass index: 33.8; retinal degeneration; no polydactyly; obesity: Yes; intellectual disability; hypogonadism; renal anomalies: left kidney: focal caliectasis in upper and interpolar region; additional features: elevated liver enzymes, hypodontia, speech disability, gynaecomastia 1 1 LOVD
00412553 F05_V:4 PubMed: Maria 2016 family F05 F yes - Pakistani - 0 - - retinal disease body mass index: 32.9; retinal degeneration; no polydactyly; obesity: Yes; intellectual disability: not determined; hypogonadism; renal anomalies: none; additional features: gynaecomastia, cerebral atrophy 1 1 LOVD
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