All individuals with variants in gene PIKFYVE

7 entries on 1 page. Showing entries 1 - 7.
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00292552 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 15 Mohammed Faruq
00292553 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 116 Mohammed Faruq
00292554 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 26 Mohammed Faruq
00292555 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00304778 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00324517 FamBPatII1 PubMed: Roosing 2014, Journal: Roosing 2014 2-generation family, 1 affected child (M), unaffected heterozygous carrier parents M ? Netherlands - >60y - - treated for hypertension CORD 14y-reduced visual acuity (HP:0007663), photophobia (HP:0000613), nystagmus HP:0000639), abnormality of colour vision (HP:0000551), 50-59y-reduced visual acuity (HP:0007663), >60y-degenerative changes consisting of RPE atrophy and bone-spicule pigmentations in the periphery of the inferior quadrant, abnormality at the inner-segment ellipsoid zone; 55y-absent rod- and cone-mediated responses on ERG 2 1 Jens Doets
00451663 3bINP-109 PubMed: Vela-Amieva 2024 Co-occurrence of two different monogenic diseases. M no Mexico Mexican - - - - CBSD Mild Intellectual disability, Developmental regression, Seizures. Co-ocurrence with Corneal fleck dystrophy (OMIM: 121850) 1 1 Miriam Erandi Reyna-Fabián
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