All individuals with variants in gene CHSY3

7 entries on 1 page. Showing entries 1 - 7.
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00050575 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, seizures 1 1 Johan den Dunnen
00390640 family PubMed: Peeters 2021 4-generation family, 10 affected (5F, 5M) F;M no Belgium - - - - - ? see paper; ..., carpal tunnel syndrome, pain, numbness and/or decreased grip strength both hands and fingers, atrophy thenar muscles (most affecteds); early onset (youngest 10m) 1 10 Johan den Dunnen
00411240 HS461-3 PubMed: Macke_1993 - M - United States - - - - - retinal disease - 1 1 LOVD
00411586 III:2 PubMed: Oh 2000 no individual ID, only number of individuals with the mutation; mutation report F - United States - - - - - retinal disease current best corrected visual acuity right, left eye: 20/20 OU, 20/20; manifest refraction: Plano, ; Goldmann perimetry results: Superior loss with rim; reduction scotopic dim flash electroretinogram,%: 30.2; fundus findings: bone spicule-like pigmentation and atrophy; fundus findings: bone spicule-like pigmentation and atrophy in inferior and nasal distributions of midperiphery 1 1 LOVD
00411883 1_P3 PubMed: Aleman 2008 - F - United States - - - - - retinal disease best corrected visual acuity right, left eye: 20/40, 20/32; refraction: -0.75; kinetic visual field extent (V-4e) - percentage of normal mean of V-4e target; 2 SD below normal equals 90%; average both eyes; similar in the two eyes unless specified: 4; electroretinogram amplitude rod b-Wave: not detectable; cone flicker: not detectable 1 1 LOVD
00411889 6_P1 PubMed: Aleman 2008 - F - United States - - - - - retinal disease best corrected visual acuity right, left eye: 20/80, hand motions; refraction: +2; kinetic visual field extent (V-4e) - percentage of normal mean of V-4e target; 2 SD below normal equals 90%; average both eyes; similar in the two eyes unless specified: 1; electroretinogram amplitude rod b-Wave: not detectable; cone flicker: not detectable 1 1 LOVD
00411895 9_P2 PubMed: Aleman 2008 - F - United States - - - - - retinal disease best corrected visual acuity right, left eye: 20/20; refraction: plano; kinetic visual field extent (V-4e) - percentage of normal mean of V-4e target; 2 SD below normal equals 90%; average both eyes; similar in the two eyes unless specified: 93; electroretinogram amplitude rod b-Wave: 37; cone flicker: 82 1 1 LOVD
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