All individuals with variants in gene SAMD11

12 entries on 1 page. Showing entries 1 - 12.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00261157 Pat4 Journal: Holt 2019 - F - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00327463 M69 II-1 Doucette 2021, Submitted Affected sister in a 4 member family. Brother is reportedly affected however we were unable to examine him. Parents are both unaffected, presuming recessive inheritance pattern. F - Canada Middle eastern origin - - Yes - retinal degeneration Fundus findings: Circumscribed central retinal atrophy (Retinal atrophy HP:0001105) Ocular coherence tomography (OCT): Atrophy of outer retina. Bruch's membrane is absent in the central fovea. Electroretinogram: Normal ffERG in the right eye; reduced cone flash and flicker in the left eye (Abnormal ERG HP:0000512) 1 2 Lance P Doucette
00412444 Family RP-1105_II:7 PubMed: Corton 2016 Family RP-1105, proband F - Spain Spanish - - - - retinal disease best corrected visual acuity right/left eye: 0.6/0.5; visual field right/left eye: absolute scotoma, both eyes; electroretinogram: non recordable; fundus: pale optic disc, retina vessels attenuation, round and bone spicule pigmentation and retinal pigment epithelium atrophy at both eyes. atrophic plaque at macula (right eye). vitreous veils; optical coherence tomography, macula: right eye: atrophy of external layers of retina with retinal pigment epithelium loss in fovea. left eye: inner and outer segment conservation in fovea. epiretinal membrane (both eyes), optic nerve: normal; additional findings: photophobia, dyschromatopsia and nuclear and posterior subcapsular cataracts 1 1 LOVD
00412445 Family RP-1105_II:5 PubMed: Corton 2016 Family RP-1105, proband's sister F - Spain Spanish - - - - retinal disease best corrected visual acuity right/left eye: 0.2/0.2; visual field right/left eye: <8deg/<8deg; electroretinogram: not available; fundus: pale optic disc, narrowed vessels, bone spicule pigmentation in mid periphery; optical coherence tomography, macula: not available, optic nerve: normal; additional findings: subcapsular cataracts 1 1 LOVD
00412446 Family RP-1105_II:6 PubMed: Corton 2016 Family RP-1105, proband's brother M - Spain Spanish - - - - retinal disease best corrected visual acuity right/left eye: 0.6/0.6; visual field right/left eye: <10deg/<10deg; electroretinogram: non recordable; fundus: normal optic disc, narrowed vessels and bone spicule pigmentation in mid periphery; optical coherence tomography, macula: macular oedema, optic nerve: not available; additional findings: subcapsular cataracts 1 1 LOVD
00412447 Family RP-0476_II:4 PubMed: Corton 2016 Family RP-0476, proband F - Spain Spanish - - - - retinal disease best corrected visual acuity right/left eye: hand movement/0.05; visual field right/left eye: <10deg/<10deg; electroretinogram: non recordable; fundus: pale optic disc, retina vessels attenuation and moderate bone spicules; optical coherence tomography, macula: atrophic plaques in fovea and parafoveal area, absence of retinal pigment epithelium in fovea. epiretinal membrane, optic nerve: not available; additional findings: nuclear and posterior subcapsular cataracts; cornea guttata; myopia 1 1 LOVD
00412448 Family RP-0476_II:8 PubMed: Corton 2016 Family RP-0476, proband's brother M - Spain Spanish - - - - retinal disease best corrected visual acuity right/left eye: 1/0.8; visual field right/left eye: <10deg/<5deg; electroretinogram: non recordable; fundus: mild pale optic disc, narrowed vessels, and abundant round and osteoclast pigmentation in mid-periphery, retinal pigment epithelium alteration in mid-periphery and macula.; optical coherence tomography, macula: inner and outer segment preservation in fovea; optic nerve: normal; additional findings: pseudophakia and posterior capsulotomy both eyes, nasal pterigium 1 1 LOVD
00429494 - PubMed: Panneman 2023 - F - - - - - - - RP - 1 1 Daan Panneman
00429611 - PubMed: Panneman 2023 - F - - - - - - - RP - 1 1 Daan Panneman
00429875 - PubMed: Panneman 2023 - M - - - - - - - RP - 2 1 Daan Panneman
00429938 - PubMed: Panneman 2023 - F - - - - - - - RP - 2 1 Daan Panneman
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