All individuals with variants in gene DHDDS

80 entries on 1 page. Showing entries 1 - 80.
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     
00155314 MOL0213 PubMed: Sharon 2015, PubMed: Kimchi 2018, PubMed: Sharon 2019 - M no Israel Jewish-Ashkenazi - - - - retinal disease - 1 4 Dror Sharon
00155315 MOL1340 PubMed: Kimchi 2018, PubMed: Sharon 2019 - F no Israel Jewish-Ashkenazi - - - - retinal disease ...details... 2 1 Dror Sharon
00231881 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00231882 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00231883 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 5 Yoshito Koyanagi
00231884 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 480 Yoshito Koyanagi
00231885 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00231886 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00231887 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233592 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 667 Yoshito Koyanagi
00309722 MOL1167 PubMed: Kimchi 2018 - - - Israel Jewish-Ashkenazi - - - - retinal disease - 1 1 Johan den Dunnen
00309723 - PubMed: Kimchi 2018 12 families - - Israel Jewish-Ashkenazi - - - - retinal disease - 1 12 Johan den Dunnen
00309724 MOL1230 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - Israel Jewish-Ashkenazi - - - - retinal disease - 2 1 Johan den Dunnen
00309749 Pat121-544 PubMed: Venturini 2015 - - - Russia Jewish;Europe-E - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309750 Pat121-217 PubMed: Venturini 2015 - - - Russia Jewish - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309751 Pat121-463 PubMed: Venturini 2015 - - - Russia Jewish - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309752 Pat003-110 PubMed: Venturini 2015 - - - Romania;Russia Jewish - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309753 Pat003-015 PubMed: Venturini 2015 - - - Russia Jewish - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309759 MOL1167 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - retinal disease - 1 1 Johan den Dunnen
00309760 MOL0972 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - retinal disease - 1 1 Johan den Dunnen
00309761 MOL1044 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - retinal disease - 1 1 Johan den Dunnen
00309762 MOL1050 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - retinal disease - 1 1 Johan den Dunnen
00309763 MOL1081 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - retinal disease - 1 1 Johan den Dunnen
00309764 MOL1101 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - retinal disease - 1 1 Johan den Dunnen
00309765 MOL1287 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - retinal disease - 1 1 Johan den Dunnen
00309766 MOL1290 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - retinal disease - 1 1 Johan den Dunnen
00309767 MOL1358 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - retinal disease - 1 1 Johan den Dunnen
00309768 MOL1366 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - retinal disease - 1 1 Johan den Dunnen
00309769 MOL1445 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - retinal disease - 1 1 Johan den Dunnen
00333823 19 PubMed: Stone 2017 1 affected F - (United States) - - - - - retinal disease clinical category IA1a 1 1 LOVD
00333900 267 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IA1aiii 1 1 LOVD
00334875 PME3 PubMed: Courage 2021, Journal: Courage 2021 - M no Italy - - - - - DD , Onset age 7 slowly progressive myoclonus, ataxia on a background of developmental delay. Absence with eyelid myoclonia from age 9. No TCS. Moderate cognitive impairment. 1 1 Carolina Courage
00334877 PME71 PubMed: Courage 2021, Journal: Courage 2021 - F no Italy - - - - - DD Onset in late infancy of ataxia (mild and non-progressive), then TCS from age 17 and mild action myoclonus noted age 29. Mild learning difficulties in childhood, normal cognition. MRI: mild cerebral, cerebellar and brainstem atrophy. 1 1 Carolina Courage
00334878 PME27 PubMed: Courage 2021, Journal: Courage 2021 - F no Italy - - - - - DD Onset age 21 of tremor, daily myoclonus from 35 years of age, slowly progressive ataxia from 37 years of age. Single TCS. Normal developmental history, normal cognition. Multiple co-morbidities including bilateral deafness, cataracts, retinal dystrophy, dolicocolon, atonic bladder, hashimoto's thyroiditis, polycystic kidney disease. MRI: cerebellar atrophy. 1 1 Carolina Courage
00335459 RF.TE.0512 PubMed: Biswas 2017 - - - United States Jewish-Ashkenazi - - - - retinal disease see paper; ... 1 1 LOVD
00335460 RF.AA.1104 PubMed: Biswas 2017 - - - United States Jewish - - - - retinal disease see paper; ... 2 1 LOVD
00335461 RF.PO.1109 PubMed: Biswas 2017 - - - United States Jewish-Ashkenazi - - - - retinal disease see paper; ... 1 1 LOVD
00358802 176266 - - F ? Germany - - - - - DEDSM (+) Seizure,(+) Intellectual disability, mild,(+) Gait ataxia,(+) Generalized-onset seizure / Epilepsy since the 13th month, with generalised tonic-clonic seizures, generalised frequent or continuous myoclonias, proged ataxia, reduced intelligence, psychotic episodes. 1 1 Andreas Laner
00372663 RP338 PubMed: Xu 2014 patient M - China - - - - - retinal disease see paper; ... 1 1 LOVD
00376759 19 PubMed: Wang 2014 - M - United States - - - - - retinal disease - 1 1 LOVD
00376785 52 PubMed: Wang 2014 - M - United States - - - - - retinal disease - 1 1 LOVD
00383816 - PubMed: Hariri 2018 - ? - - - - - - - retinal disease BCVA OD-OS: 20/20-20/20 2 1 LOVD
00383817 - PubMed: Hariri 2018 - ? - - - - - - - retinal disease BCVA OD-OS: 20/30-20/40 1 1 LOVD
00383818 - PubMed: Hariri 2018 - ? - - - - - - - retinal disease BCVA OD-OS: 20/40-20/50 1 1 LOVD
00383819 - PubMed: Hariri 2018 - ? - - - - - - - retinal disease BCVA OD-OS: 20/60-20/100 1 1 LOVD
00386655 121-217 PubMed: Zampaglione 2020 - ? - - - - - - - retinal disease - 2 1 LOVD
00386666 121-544 PubMed: Zampaglione 2020 - ? - - - - - - - retinal disease - 2 1 LOVD
00387037 63 PubMed: Jauregui 2020 - F - (United States) white - - - - retinal disease - 1 1 LOVD
00387038 64 PubMed: Jauregui 2020 - F - (United States) white - - - - retinal disease - 1 1 LOVD
00387508 - PubMed: Matsui 2015 - F - United States - - - - - retinal disease - 1 1 LOVD
00388540 OFTALMO.001 PubMed: Dineiro 2020 - ? - Spain - - - - - retinal disease Non‐syndrom 1 1 LOVD
00409234 CHRD0262 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - retinal disease 56y: refraction (diopters): plano / plano, best corrected visual acuity right/left eye: 0.20 / 0.20; cone flicker electroretinogram responses (uV): 04/04, rod electroretinogram responses (b-wave, uV): not detectable / not detectable 1 1 LOVD
00409235 CHRD0262-1 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - retinal disease 51y: refraction (diopters): -3.25, best corrected visual acuity right/left eye: 0.10 / 0.10; cone flicker electroretinogram responses (uV): 06/06, rod electroretinogram responses (b-wave, uV): 20 / 20 1 1 LOVD
00409236 CHRD0677 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - retinal disease 33y: refraction (diopters): plano, best corrected visual acuity right/left eye: 1.00 / 1.50; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable / not detectable; 39y: refraction (diopters): plano, best corrected visual acuity right/left eye: 1.60 / light perception 1 1 LOVD
00409237 CHRD3323 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - retinal disease 35y: refraction (diopters): +0.75, best corrected visual acuity right/left eye: 0.70 hand motion; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable / not detectable; 40y: refraction (diopters): intraocular lens (after cataract surgery), best corrected visual acuity right/left eye: 0.70 / light perception; 46y: refraction (diopters): intraocular lens (after cataract surgery), best corrected visual acuity right/left eye: hand motion / light perception 1 1 LOVD
00409238 CHRD3458 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - retinal disease 28y: refraction (diopters): plano, best corrected visual acuity right/left eye: 0.30 0.30; cone flicker electroretinogram responses (uV): not detectable not detectable (age 19) (age 19), rod electroretinogram responses (b-wave, uV): not detectable not detectable 1 1 LOVD
00409239 CHRD4047 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - retinal disease 47y: refraction (diopters): intraocular lens (after cataract surgery), best corrected visual acuity right/left eye: 0.70 0.20; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable / not detectable; 60y: refraction (diopters): intraocular lens (after cataract surgery), best corrected visual acuity right/left eye: 0.70 / 0.50; 64y: refraction (diopters): intraocular lens (after cataract surgery), best corrected visual acuity right/left eye: 0.70 / 0.50 1 1 LOVD
00409240 CHRD5151 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - retinal disease 20y: refraction (diopters): -1.5, best corrected visual acuity right/left eye: 0.20 0.20; cone flicker electroretinogram responses (uV): 9 / 8, rod electroretinogram responses (b-wave, uV): 5 / 4 1 1 LOVD
00409241 MOL0397-1 PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - retinal disease 25y: best corrected visual acuity right/left eye: finger counting 1m / 0.20; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable / not detectable 1 1 LOVD
00409242 MOL0400-1 PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - retinal disease 25y: refraction (diopters): +1.5, best corrected visual acuity right/left eye: 0.40 0.40; cone flicker electroretinogram responses (uV): not detectable / not detectable (age 38), rod electroretinogram responses (b-wave, uV): not detectable / not detectable; 51y: best corrected visual acuity right/left eye: 0.60 / 0.60 1 1 LOVD
00409243 MOL0565-1 (II:2) PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - retinal disease 25y: refraction (diopters): -3.25, best corrected visual acuity right/left eye: 0.18 0.18; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable not detectable; 32y: best corrected visual acuity right/left eye: hand motion 0.5m / hand motion 0.5m 1 1 LOVD
00409244 MOL0565-2 (II:3) PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - retinal disease 37y: refraction (diopters): -8, best corrected visual acuity right/left eye: 0.18 0.18; cone flicker electroretinogram responses (uV): not performed, rod electroretinogram responses (b-wave, uV): not performed 1 1 LOVD
00409245 MOL0718-1 PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - retinal disease no clinical data available 1 1 LOVD
00409246 MOL0735-1 (II:2) PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - retinal disease 20y: refraction (diopters): -0.5, best corrected visual acuity right/left eye: 0.10 0.10; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable not detectable 1 1 LOVD
00409247 MOL0779-1 (II:1) PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - retinal disease 34y: refraction (diopters): +1.5, best corrected visual acuity right/left eye: 300; cone flicker electroretinogram responses (uV): not performed, rod electroretinogram responses (b-wave, uV): not performed 1 1 LOVD
00409248 MOL0779-2 (II:2) PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - retinal disease 43y: refraction (diopters): +0.5, best corrected visual acuity right/left eye: 1.00 30; cone flicker electroretinogram responses (uV): not performed, rod electroretinogram responses (b-wave, uV): not performed 1 1 LOVD
00409249 MOL0884-1 (II:1) PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - retinal disease 18y: refraction (diopters): +0.5, best corrected visual acuity right/left eye: 100; cone flicker electroretinogram responses (uV): <5 / <5, rod electroretinogram responses (b-wave, uV): not detectable not detectable 1 1 LOVD
00409250 MOL0884-2 (II:2) PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - retinal disease 17y: refraction (diopters): plano, best corrected visual acuity right/left eye: 18 / 18; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable / not detectable 1 1 LOVD
00409251 MOL0884-4 (II:4) PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - retinal disease 13y: refraction (diopters): plano, best corrected visual acuity right/left eye: 0.00 / 0.00; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): 50 / 50 1 1 LOVD
00409252 TB31/R54 (II:1) PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - retinal disease 20y: refraction (diopters): -1, best corrected visual acuity right/left eye: 0.10 0.10; cone flicker electroretinogram responses (uV): not detectable / not detectable, rod electroretinogram responses (b-wave, uV): not detectable / not detectable; 26y: best corrected visual acuity right/left eye: 0.30 / 0.30; 32y: best corrected visual acuity right/left eye: 0.30 / 0.30 1 1 LOVD
00409253 TB61/R226 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - retinal disease no clinical data available 1 1 LOVD
00409255 II:1 PubMed: Zuchner 2011 - ? - - Ashkenazi Jewish - - - - retinal disease fundus: diffuse pigmentary retinal degeneration with pigmentary clumping and vascular attenuation 1 1 LOVD
00409256 II:2 PubMed: Zuchner 2011 - ? - - Ashkenazi Jewish - - - - retinal disease - 1 1 LOVD
00409257 II:4 PubMed: Zuchner 2011 - ? - - Ashkenazi Jewish - - - - retinal disease - 1 1 LOVD
00409271 ? PubMed: Sabry 2016 - M no - - 00y08m - - - RP59;CDG1BB intra-uterine growth retardation and decreased fetal movements; born at 37 weeks of gestation with a weight of 2090 g (-3.25 SD), a length of 42 cm (-4 SD), an occipitofrontal circumference of 32 cm (-2 SD) and Apgar score 10/10; two episodes of severe bradycardia during the first day of life and was transferred to an intensive care unit; axial hypotonia, peripheral hypertonia, enlarged liver, micropenis and cryptorchidism; transient increase of serum transaminases, renal failure; developed epilepsy; liver sonography: mild dilatation of the biliary duct; little psychomotor acquisitions, no eye contact, poor sucking with frequent regurgitations; failure to thrive; 2 months: fundus: pale papillae, electroretinogram: showed no response to any type of stimulation; brainstem evoked auditory potentials: sensorineural deafness with an auditory threshold of 90 dB (right ear) and 100 dB (left ear); died at 8 months during a status epilepticus 2 1 LOVD
00438707 HSJ0762 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE see paper; ..., global developmental delay; 1y-seizure; EEG generalized spike-wave, diffuse slowing; MRI brain normal; hypotonia, tremor, wide-based gate, ataxia, no seizures for 1 year on VPA 1 1 Johan den Dunnen
00438755 indvSG PubMed: Hamdan 2017 - F - United States - - - - - DEE see paper; ..., global developmental delay, severe intellectual disability; 18m-seizures; EEG generalized spike-wave, photosensitive; MRI brain normal; hypotonia, short stature, intractable seizures 1 1 Johan den Dunnen
00438756 indvEF PubMed: Hamdan 2017 - F - United States - - - - - DEE see paper; ..., severe global developmental delay, severe intellectual disability; 4y-seizures; EEG epileptiform; MRI brain normal, Chiari I malformation; hypotonia, tremor, ataxia, inattention, obesity, seizures controlled with OXBZ 1 1 Johan den Dunnen
00438757 MDB31882 PubMed: Hamdan 2017 - M - Italy - - - - - DEE see paper; ..., global developmental delay, severe intellectual disability; 6y-9y-seizures; EEG generalized poly-spike and wave; MRI brain normal, generalized tremor, facial myokimia, bradykinesia, hypomimia, rigidity, freezing and impaired postural reactions, frontal lobe impairment features, no seizures since the age of 9 years, normal glycosylation assay; current therapy VPA, clonazepam, tetrabenazine 1 1 Johan den Dunnen
00438758 indvNCJ PubMed: Hamdan 2017 - F - Netherlands - - - - - ID see paper; ..., global developmental delay, moderate/severe intellectual disability; 7y-seizures; EEG normal; MRI brain normal; ataxia, myoclonus, tremor, dystonia, short stature, no treatment initiated yet for cortical myoclonus, normal glycosylation assay 1 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.