All individuals with variants in gene PDE6H

19 entries on 1 page. Showing entries 1 - 19.
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00308620 - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00377187 259 Tracewska 2021, MolVis in press sister F no Poland Slavic - - yes - retinal disease see paper 2 2 LOVD
00377188 260 Tracewska 2021, MolVis in press proband F no Poland Slavic - - yes - retinal disease see paper 2 1 LOVD
00377273 476 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - retinal disease see paper 1 1 LOVD
00386201 RPN-320 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00391807 BPE-022 PubMed: Langlo 2014 - M - United States - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00402879 Fam1PatIV4 PubMed: Lin 2023, Journal: Lin 2023 4-generation family, 1 affected, unaffected heterozygous parents M yes Iran - - - - - NDD - 1 1 Barbara Vona
00416015 NL-II:1 PubMed: Kohl 2012 - M - - Belgian - - - - retinal disease best-corrected Snellen visual acuity:20/125, 20/125; refraction:-7.5, -6.5; color vision: severely disturbed red/green axes, normal blue/ yellow axes; photophobia: since birth; nystagmus: since birth; rod electroretinogram: scotopic responses normal; cone electroretinogram: severely reduced cone electroretinogram and absent 30 Hz flicker response 1 1 LOVD
00416016 BE-II:1 PubMed: Kohl 2012 - M - - Belgian - - - - retinal disease best-corrected Snellen visual acuity:20/63, 20/63; refraction:-13.75, -14.25; color vision: D-15: sat: no confusions; desat: multiple confusions, disturbed red/green axes, normal blue axes; photophobia: moderate; nystagmus: no; rod electroretinogram: scotopic responses normal; cone electroretinogram: severely reduced cone electroretinogram and absent 30 Hz flicker response 1 1 LOVD
00416017 BE-II:2 PubMed: Kohl 2012 - F - - Belgian - - - - retinal disease best-corrected Snellen visual acuity:20/200, 20/100; refraction:-8.25, -8.25; color vision: D-15: sat: no confusions; desat: multiple confusions, disturbed red/green axes, normal blue axes; photophobia: moderate; nystagmus: yes; rod electroretinogram: scotopic responses normal; cone electroretinogram: severely reduced cone electroretinogram and absent 30 Hz flicker response 1 1 LOVD
00416018 Patient II:1 PubMed: Pedurupillay 2016 parents were first-degree cousins - - - Pakistani - - - - retinal disease best corrected visual acuity: 6/15, 6/24; refraction: 10.5, -2.5 x 180; -10.5, -2.5 x 160; nystagmus: present; photophobia: absent; goldmann perimetry: normal; fundoscopy: changes in optic disc and peripapillary area; retina: mild myopic changes; macular autofluorescence: mottled; color vision: red-green deficiency: severe, blue-yellow: normal; electroretinogram: rods: normal; cones single flash: weak; cones 30 Hz flicker: weakoptical coherence tomography, inner/outer segment junction: normal, fovea: normal 1 1 LOVD
00416019 Patient II:2 PubMed: Pedurupillay 2016 parents were first-degree cousins - - - Pakistani - - - - retinal disease best corrected visual acuity: 6/20, 6/15; refraction: -9.0, -2.0 x 30, -9.5, -2.5 x 160; nystagmus: present transiently; photophobia: absent; goldmann perimetry: not available; fundoscopy: changes in optic disc and peripapillary area, discreet, small disruptions of retinal pigment epithelium in central fovea; retina: mild myopic changes; macular autofluorescence: mottled; color vision: red-green deficiency: moderate, blue-yellow: normal; electroretinogram: rods: normal; cones single flash: weak; cones 30 Hz flicker: weakoptical coherence tomography, inner/outer segment junction: normal, fovea: norma 1 1 LOVD
00426909 13_15 PubMed: Zhu 2022 family 13, individual 15 M - - - - - - - retinal disease - 2 1 LOVD
00446726 Pat21 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., birth 38w; respiratory distress, apnea-bradycardia; no fetal hydrops/edema; no feeding difficulty, no failure to thrive; no spasticity extremities; no recurrent infections; no renal anomalies; secundum type atrial septal defect; no sketelal anomalies; sandal gap, pes planus, 5th finger clinodactyly; corpus callosum hypoplasia; colpocephaly, enlarged occipital horns and lateralization of the frontal horns of the lateral ventricles; no seizures, EEG normal; delayed motor development, >2y-walk, stereotypic stiff upholded arms and outward rotation of feet during running, fine motor; intellectual disability; speech delay; flat affect, occasional temper outbursts, aggression, withdrawn nature, shyness; amblyopia, strabismus convergent strabisms astigmatism, cone dystrophy; no hearing problems; no altered sensation pain/heat/smell/touch; narrow palpebral fissures; long face, low anterior hairline; pointed chin; nose narrow nasal bridge, broad nasal base; thin upper lip, everted lower lip; pointed teeth; normal ears; no hair/skin/nail anomalies; no haematological problems; inguinal hernia 1 1 Johan den Dunnen
00455007 Fam423Pat86 PubMed: Andersen 2023 family, 2 affected - yes Denmark - - - - - ACHM see paper; ... 1 2 Susanne Kohl
00455008 Fam423Pat87 PubMed: Andersen 2023 sib - yes Denmark - - - - - ACHM see paper; ... 1 1 Susanne Kohl
00455009 Fam409Pat88 PubMed: Andersen 2023 family, 3 affected - no Denmark - - - - - ACHM see paper; ... 1 3 Susanne Kohl
00455010 Fam409Pat89 PubMed: Andersen 2023 sib - no Denmark - - - - - ACHM see paper; ... 1 1 Susanne Kohl
00455011 Fam409Pat90 PubMed: Andersen 2023 sib - no Denmark - - - - - ACHM see paper; ... 1 1 Susanne Kohl
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