All individuals with variants in gene SCAPER

37 entries on 1 page. Showing entries 1 - 37.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00018545 - PubMed: Quadri 2014 - - - Italy Sardinians - - - - PD - 1 32 Marialuisa Quadri
00265203 Pat PubMed: Kiselev 2019 - F - Sweden - - - - - MD see paper; ..., cardiomyopathy, limb-girdle type muscular dystrophy 1 1 Johan den Dunnen
00309421 FamApatII:1 PubMed: Tatour 2017, PubMed: Sharon 2019 2-generation family, 2 affected sisters F yes Israel Muslim Arab - - - - retinal disease 15y: best corrected visual acuity right/left eye: 0.5 / 0.2; full field electroretinography (right eye only), light adapted: non-recordable, dark adapted: non-recordable; flash visual evoked potentials: normal; additional ocular findings: esotropia and elevation deficiency left eye; extra-ocular findings: intellectual disability, attention deficit/hyperactivity disorder; 24y: best corrected visual acuity right/left eye: 0.3 / 0.2; ophthalmoscopic findings: optic disc pallor, attenuated retinal blood vessels, bone-spicule pigmentation; additional ocular findings: cataract, secondary glaucoma left eye; cystoid macular edema both eyes 1 2 Global Variome, with Curator vacancy
00309519 FamB PubMed: Tatour 2017 1-generation family, 1 affected F - Spain - - - - - ? 28y: best corrected visual acuity right/left eye: 0.4 / 0.5; full field electroretinography, light adapted: non-recordable, dark adapted: non-recordable; flash visual evoked potentials: not done; ophthalmoscopic findings: optic disc pallor, attenuated retinal blood vessels, bone-spicule pigmentation; additional ocular findings: subcapsular posterior cataract subcapsular posterior cataract both eyes, rotational fixation nystagmus both eyes, high myopia, mild astigmatism; extra-ocular findings: intellectual disability, attention deficit/hyperactivity disorder, alopecia areata; 34y: best corrected visual acuity right/left eye: 0.3 / 0.4 1 1 Johan den Dunnen
00309520 FamC PubMed: Tatour 2017 1-generation family, 1 affected M - Spain - - - - - ? 15y: best corrected visual acuity right/left eye: not available; full field electroretinography, light adapted: non-recordable, dark adapted: non-recordable; flash visual evoked potentials: abnormal; ophthalmoscopic findings: peripapillary atrophy, attenuated retinal blood vessels, bone-spicule pigmentation; extra-ocular findings: intellectual disability 2 1 Johan den Dunnen
00387076 102 PubMed: Jauregui 2020 - M - (United States) Other - - - - retinal disease - 1 1 LOVD
00387770 M8500314 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes - Baloch - - - - ID syndromic intellectual disability, no microcephaly 1 3 Johan den Dunnen
00390402 G001284 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 2 1 LOVD
00395565 RP-0346 PubMed: Perea-Romero 2021 - - - Spain - - - - - retinal disease anterior polar and posterior subcapsular cataract, horizontal nystagmus, rod-cone dystrophy, growth hormone deficiency, intellectual disability, gait disturbance, abnormality of the hypothenar eminence, genu valgum, talipes equinovarus, short neck, male hypogonadism, epicanthus, hypertelorism, low-set ears, microretrognathia, narrow palate, abnormality of the nail, dry skin, erythema 2 1 LOVD
00412660 FamApatII:1 PubMed: Tatour 2017 sister of II:1 F yes Israel Arabic - - - - BBS 14y: best corrected visual acuity right/left eye: 0.6 / 0.6; full field electroretinography (right eye only), light adapted: non-recordable, dark adapted: non-recordable; flash visual evoked potentials: abnormal; additional ocular findings: strabismus both eyes; extra-ocular findings: intellectual disability, attention deficit/hyperactivity disorder; 23y: best corrected visual acuity right/left eye: 0.1 / 0.1; ophthalmoscopic findings: optic disc pallor, attenuated retinal blood vessels, bone-spicule pigmentation 1 1 LOVD
00412669 P1:V5 PubMed: Wormser 2019 pedigree 1 F yes Israel Bedouin - - - - BBS strabismus, uncorrected visual acuity right, left eye: light perception, hand motion; retinitis pigmentosa - nyctalopia 10y; pale optic disk, attenuated vessels, bone spicules in mid-periphery, hypopigmented areas, posterior subcapsular cataract; intellectual disability: moderate; short stature: yes, 145 cm; weight (kg): 78; obesity - calculated BMI kg/m2: 37.1; genu valgum; varum 1 1 LOVD
00412670 P1:V6 PubMed: Wormser 2019 pedigree 1 M yes Israel Bedouin - - - - BBS strabismus, best corrected visual acuity right, left eye: 6/12, 6/12; retinitis pigmentosa - nyctalopia 15y; pale optic disk, attenuated vessels, bone spicules in mid-periphery, hypopigmented spots, posterior subcapsular cataract and nuclear, punctate; intellectual disability: moderate; short stature: yes, 157 cm; weight (kg): 78; obesity - calculated BMI kg/m2: 31.6; genu valgum; varum 1 1 LOVD
00412671 P1:V7 PubMed: Wormser 2019 pedigree 1 M yes Israel Bedouin - - - - BBS strabismus, uncorrected visual acuity: 6/60, 6/120; retinitis pigmentosa - nyctalopia 13y; pale optic disk, attenuated vessels, bone spicules in mid-periphery, hypopigmented spots, posterior subcapsular cataract; intellectual disability: moderate; short stature: yes, 163 cm; weight (kg): 98; obesity - calculated BMI kg/m2: 36.9; genu valgum; varum 1 1 LOVD
00412672 P1:V8 PubMed: Wormser 2019 pedigree 1 M yes Israel Bedouin - - - - BBS best corrected visual acuity right, left eye: 6/10, 6/10; retinitis pigmentosa - nyctalopia 7y; right eye impression of a few bone spicules in mid-periphery, left eye: no cooperation; intellectual disability: moderate; short stature: yes, 155 cm; weight (kg): 92; obesity - calculated BMI kg/m2: 38.3; genu valgum; varum 1 1 LOVD
00412673 P2:III1 PubMed: Wormser 2019 pedigree 2 F yes Israel Bedouin - - - - BBS best corrected visual acuity: no light perception; retinitis pigmentosa - nyctalopia 20y; optic atrophy, attenuated vessels, gray atrophic retina, diffuse bone spicules, severe maculopathy, mild cortical cataract; intellectual disability: severe; short stature: yes, 146 cm; weight (kg): 86.6; obesity - calculated BMI kg/m2: 40.6; genu valgum: unknown; varum 1 1 LOVD
00412674 P2:III2 PubMed: Wormser 2019 pedigree 2 F yes Israel Bedouin - - - - BBS strabismus, best corrected visual acuity right, left eye: hand motion 15cm, light perception; retinitis pigmentosa - nyctalopia 28y; optic atrophy, attenuated vessels, gray atrophic retina, diffuse coarse pigment clumps &bone spicules, macular edema, mild posterior subcapsular cataract; intellectual disability: severe; short stature: yes, 149 cm; weight (kg): 62; obesity - calculated BMI kg/m2: no, but overweight - 27.9; genu valgum; varum 1 1 LOVD
00412675 P2:III7 PubMed: Wormser 2019 pedigree 2 F yes Israel Bedouin - - - - BBS uncorrected visual acuity: 6/21, 6/21; retinitis pigmentosa - nyctalopia 25y; bone spicules in mid-periphery, granular appearance in the posterior pole; intellectual disability: severe; short stature: yes, 132 cm; weight (kg): 57.8; obesity - calculated BMI kg/m2: 33.2; genu valgum: unknown; varum 1 1 LOVD
00412676 P2:IV1 PubMed: Wormser 2019 pedigree 2 M yes Israel Bedouin - - - - BBS suspected retinitis pigmentosa - fixes and follows objects, small optic disk with mild pallor, grayish retinal discoloration in mid-periphery; intellectual disability: moderate; short stature: yes, percentile 3-5% (129 cm; weight (kg): 29.5 (percentile 25-50%); obesity - calculated BMI kg/m2: BMI-for-age at the 68th percentile; genu valgum; varum 1 1 LOVD
00412677 ? PubMed: Jauregui 2019 patient's paternal grandmother and maternal grandfather are first cousi F yes United States Jordanian Arab - - - - BBS absence of intellectual disability and attention-deficit/hyperactivity disorder; best corrected visual acuity right, left eye: 20/40, 20/25; fundus: pale optic disc and no cystoid macular edema bilaterally; bilateral bone-spicule intraretinal pigment migration mainly in the superior and nasal fields, with peripheral retinal atrophy; macular spectral domain optical coherence tomography: peripheral thinning of the retina, affecting mainly the outer nuclear layer, disruption of the ellipsoid zone line in the periphery, while it was conserved in the foveal area; foveal border flattened and enlarged; fundus autofluorescence: peripheral atrophy along with the presence of a hyperautofluorescent ring in the foveal area commonly observed in retinitis pigmentosa patients; scotopic rod-specific and maximal responses full field electroretinogram: undetectable in both eyes; photopic 30 Hz-flicker amplitudes markedly subnormal bilaterally 1 1 LOVD
00412709 Patient 1 PubMed: Fasham 2019 Amish family patient VII:1, brother of VII:5 M yes United States Amish - - - - retinal disease weight (kg, standard deviation scores): 68.9 (+1.9); height (cm, standard deviation scores): 166.3 (+0.7); occipitofrontal circumference: 56.4 (+0.39); body mass index: 24.9 (+2.0); walking: 24m; speech delay: yes; intellectual disability: moderate; behavior: hyperactivity; magnetic resonance imaging: normal; retinitis pigmentosa; brachydactyly; other clinical findings: proximally placed thumbs, short fifth fingers, pes planus, frontal bossing, almond-shaped eyes, and inverted nipples 1 1 LOVD
00412710 Patient 2 PubMed: Fasham 2019 Amish family patient VII:5, sister of VII:1 F yes United States Amish - - - - retinal disease weight (kg, standard deviation scores): 8.6 (−2.2); height (cm, standard deviation scores): 78.5 (−0.7); occipitofrontal circumference: 47 (−0.92); body mass index: 14 (−2.5); walking: 22m; speech delay: yes; intellectual disability: mild; behavior: hyperactivity; neuroimaging: not available; retinitis pigmentosa; brachydactyly; other clinical findings: proximally placed thumbs, short fifth fingers, pes planus, frontal bossing, almond-shaped eyes, and inverted 1 1 LOVD
00412711 Patient 3 PubMed: Fasham 2019 - F - United States South Asian - - - - retinal disease weight (kg, standard deviation scores): 25th centile; height (cm, standard deviation scores): 3rd centile; occipitofrontal circumference: not available; body mass index: not available; walking: 11m; speech delay: yes; intellectual disability: moderate; behavior: attention-deficit hyperactivity disorder; autism, and self-harm ; retinitis pigmentosa; brachydactyly: not available 2 1 LOVD
00412712 Patient 4 PubMed: Fasham 2019 - F - United States Caucasian - - - - retinal disease weight (kg, standard deviation scores): not available; height (cm, standard deviation scores): not available; occipitofrontal circumference: 57 (95th centile); body mass index: not available; walking: 15m; speech delay: yes; intellectual disability: mild; behavior: dyspraxia; neuroimaging: not performed; retinitis pigmentosa; brachydactyly: not available 2 1 LOVD
00412713 Patient 5 PubMed: Fasham 2019 - F - United States - - - - - retinal disease weight (kg, standard deviation scores): not available; height (cm, standard deviation scores): not available; occipitofrontal circumference: not available; body mass index: obese; walking: not available; speech delay: not available ; intellectual disability: yes; behavior: not available; magnetic resonance imaging: normal; retinitis pigmentosa; brachydactyly: not available 2 1 LOVD
00412714 Patient 6 PubMed: Fasham 2019 - F - United States - - - - - retinal disease weight (kg, standard deviation scores): 63.6 (+0.6); height (cm, standard deviation scores): 162.6 (−0.2); occipitofrontal circumference: not available; body mass index: 24 (+0.63); walking: 15-18m; speech delay: Yes; intellectual disability: mild (IQ 50-60); behavior: attention-deficit hyperactivity disorder; magnetic resonance imaging: normal; retinitis pigmentosa; brachydactyly: not available; other clinical findings: moderate eczema with severe skin-picki 2 1 LOVD
00412725 III:6 PubMed: Kahrizi 2019 Family 1 M yes - - - - - - retinal disease postnatal growth HC (cm): 32; height (cm): 46; birth weight (g): 2280; hc (cm): 55; height (cm): 158; weight (kg): 42; facial appearance: prominent nose, narrow chin, high forehead; development: head control (m): not available; sitting (m): 7; standing (m): not available; walking: 1y9m; speaking: 2y; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 50; gait disturbance: yes; hypotonia: yes; behavior: attention deficit hyperactivity disorder: no; self-injury: yes; eyes, strabismus: no; myopia: yes; vision impairment: no; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: syndactyly; skin involvement: no; magnetic resonance imaging: no 1 1 LOVD
00412726 III:7 PubMed: Kahrizi 2019 Family 1 F yes - - - - - - retinal disease postnatal growth HC (cm): not available; height (cm): not available; birth weight (g): not available; hc (cm): 55; height (cm): 150; weight (kg): 43.5; facial appearance: prominent nose, narrow chin, high forehead; development: head control (m): not available; sitting (m): 8���9; standing (m): not available; walking: 1y9m; speaking: 2y; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 67; gait disturbance: ; hypotonia: ; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: no; myopia: yes; vision impairment: no; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; magnetic resonance imagi 1 1 LOVD
00412727 II:1 PubMed: Kahrizi 2019 Family 2 (M8500314) F yes - - - - - - retinal disease postnatal growth HC (cm): 35; height (cm): 50; birth weight (g): 2500; hc (cm): 52.5; height (cm): 152; weight (kg): not available; facial appearance: prominent maxilla, micrognathia; development: head control (m): 8; sitting (m): 12; standing (m): 24; walking: 3y; speaking: 4y; seizures: yes; medication response: yes; cognitive impairment: yes; intelligent qotient (IQ): 31; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: no; myopia: no; vision impairment: no; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: no; magnetic resonance imaging: no 1 1 LOVD
00412728 II:2 PubMed: Kahrizi 2019 Family 2 (M8500314) M yes - - - - - - retinal disease postnatal growth HC (cm): 34; height (cm): 48; birth weight (g): 2800; hc (cm): 51; height (cm): 160; weight (kg): not available; facial appearance: prominent maxilla, micrognathia; development: head control (m): 8; sitting (m): 13; standing (m): 24; walking: 3y; speaking: 4y; seizures: yes; medication response: yes; cognitive impairment: yes; intelligent qotient (IQ): 30; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: yes; myopia: no; vision impairment: no; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: no; magnetic resonance imaging: no 1 1 LOVD
00412729 II:4 PubMed: Kahrizi 2019 Family 2 (M8500314) M yes - - - - - - retinal disease postnatal growth HC (cm): 35; height (cm): 51; birth weight (g): 3400; hc (cm): 55; height (cm): 172; weight (kg): not available; facial appearance: prominent maxilla; development: head control (m): ; sitting (m): ; standing (m): 20; walking: 3y; speaking: 3y; seizures: yes; medication response: yes; cognitive impairment: yes; intelligent qotient (IQ): 34; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: no; myopia: no; vision impairment: no; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: no; magnetic resonance imaging: no 1 1 LOVD
00412730 IV:1 PubMed: Kahrizi 2019 Family 3 (M8600086) M yes - - - - - - retinal disease postnatal growth HC (cm): not available; height (cm): not available; birth weight (g): not available; hc (cm): 57.5; height (cm): 164; weight (kg): not available; development: head control (m): 4; sitting (m): 8; standing (m): 11; walking: 2y6m; speaking: 2Y; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 40; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: yes; myopia: no; vision impairment: night blindness; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: vitiligo ; speech: yes; magnetic resonance imaging: no 1 1 LOVD
00412731 IV:2 PubMed: Kahrizi 2019 Family 3 (M8600086) F yes - - - - - - retinal disease postnatal growth HC (cm): 34; height (cm): 49; birth weight (g): 3000; hc (cm): 55; height (cm): 145; weight (kg): 40; development: head control (m): 5; sitting (m): 10; standing (m): 12; walking: 1y6m; speaking: 18m; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 45; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: no; myopia: no; vision impairment: night blindness; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: yes; magnetic resonance imaging: no 1 1 LOVD
00412732 IV:3 PubMed: Kahrizi 2019 Family 3 (M8600086) M yes - - - - - - retinal disease postnatal growth HC (cm): 35; height (cm): 50; birth weight (g): 3200; hc (cm): 57.5; height (cm): 163; weight (kg): not available; development: head control (m): 4; sitting (m): 8; standing (m): 11; walking: 12m; speaking: 2y; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 50; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: yes; myopia: no; vision impairment: night blindness; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: yes; magnetic resonance imaging: no 1 1 LOVD
00412733 IV:5 PubMed: Kahrizi 2019 Family 3 (M8600086) M yes - - - - - - retinal disease postnatal growth HC (cm): 35; height (cm): 49; birth weight (g): 3500; hc (cm): 52.5; height (cm): 164; weight (kg): not available; development: head control (m): 4; sitting (m): 9; standing (m): 12; walking: 1y1m; speaking: 2y; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 40; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: no; myopia: no; vision impairment: ; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: no; magnetic resonance imaging: no 1 1 LOVD
00412734 VI:1 PubMed: Kahrizi 2019 Family 4 (D87500) F yes - - - - - - retinal disease postnatal growth HC (cm): 35; height (cm): 49; birth weight (g): 2400; hc (cm): 49; height (cm): 112; weight (kg): 15; facial appearance: epicanthal fold, upslanting palpebral fissure, small mouth, low set ears; development: head control (m): 6; sitting (m): 8; standing (m): 24; walking: 2y6m; speaking: 3y; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 60; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: no; myopia: no; vision impairment: no; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: no; magnetic resonance imaging: no 1 1 LOVD
00426937 41_49 PubMed: Zhu 2022 family 41, individual 49 M - - - - - - - retinal disease - 1 1 LOVD
00448010 G001284 PubMed: Carss 2017 patient F - - Asia-S - - - - retinal disease - 2 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.