All individuals with variants in gene ARL13B

15 entries on 1 page. Showing entries 1 - 15.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00017612 - - - M yes Tunisia African - 0 - - JBTS1 - 1 1 Tania Attie-Bitach
00105223 - - family, 3 affected individuals - yes Pakistan Pathan (Pashtoon) - 0 - - JBTS - 1 3 Rafiullah Rafiullah
00105224 - - family, 2 affected individuals - yes Pakistan Pathan (Pashtoon) - 0 - - JBTS - 1 2 Rafiullah Rafiullah
00299641 FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - 0 - - retinal disease see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90 1 1 Johan den Dunnen
00318005 PKMR193 PubMed: Riazuddin 2017 - - yes Pakistan - - 0 - - ID Severe ID, Speech delay, hypotonia, epilepsy in childhood, strabismus, growth retardation 1 1 Johan den Dunnen
00372141 UW203-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372142 UW277-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00373391 2-34 PubMed: Kroes 2016 - - - - Europe-N - 0 - - retinal disease see paper; ... 1 1 LOVD
00373397 2-54 PubMed: Kroes 2016 - - - - Europe-N - 0 - - retinal disease see paper; ... 1 1 LOVD
00377788 - PubMed: Otto 2011 - - yes Pakistan - - 0 - - retinal disease - 1 1 LOVD
00390470 A016105 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - 0 - - ? - 1 1 LOVD
00395600 RP-2310 PubMed: Perea-Romero 2021 - - - Spain - - 0 - - retinal disease astigmatism, myopia, rod-cone dystrophy, asperger syndrome 1 1 LOVD
00407667 K-10 PubMed: Kang 2016 - ? - Korea, South (Republic) - - 0 - - retinal disease end-stage renal disease (years): 3, extra-renal manifestations: retinal dystrophy, hepatic fibrosis 1 1 LOVD
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