All individuals with variants in gene SSBP1

105 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00417328 Family1/Pt 2 PubMed: Del Doto 2019 Patient 2 (Pt 2) from Family 1: 3-generation family, 2 affected father and son M no Italy - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Myoclonic jerks (HP:0001336); Sensorineural hearing impairment (HP:0000407); Macular atrophy (HP:0007401); Nephropathy (HP:0000112); Vomiting (HP:0002013); Divergent strabismus (HP:0020049); Nystagmus (HP:0000639); Reduced tendon reflex (HP:0001315); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512); Exercise-induced lactic acidemia (HP:0004901); Visual field defect (HP:0001123); chronic kidney disease (HP:0012622); Growth retardation (HP:0001510) 1 2 Mohamed Selhane
00417851 Family 1/Pt 1 PubMed: Del Doto 2019 Patient 1 (Pt 1) from Family 1: 3-generation family, 2 affected father and son M no Italy - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Sensorineural hearing impairment (HP:0000407); Macular atrophy (HP:0007401); Nephropathy (HP:0000112); Stabismus (HP:0000486); Reduced tendon reflex (HP:0001315); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512); Abnormal globus pallidus morphology (HP:0002453); Hyperintensity of cerebral white matter on MRI (HP:0030890); Opto-chiasma atrophy (HP:0034008); Visual field defect (HP:0001123); Exercise-induced lactic acidemia (HP:0004901); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754); Liver steatosis (HP:0001397) 1 1 Mohamed Selhane
00417856 Family 2/Pt 3 PubMed: Del Doto 2019 Patient 3 (Pt 3) from Family 2: 3-generation family, 1 affected. F no ? (unknown) - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Sensorineural hearing impairment (HP:0000407); Nephropathy (HP:0000112); Retinal degeneration (HP:0000546) ; Nystagmus (HP:0000639); Relative afferent pupillary defect (HP:0200057) ; Optic disc pallor (HP:0000543) ; Dull foveal reflex (HP:0007750) ; Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703); chronic kidney disease (HP:0012622); Tinnitus (HP:0000360); Abnormal heart valve morphology (HP:0001654); Mitral regurgitation (HP:0001653); Aortic insufficiency (HP:0001659); Headaches (HP:0002315); Slowed slurred speech (HP:0007164); Impaired tandem gait (HP:0031629) 1 1 Mohamed Selhane
00418311 Family 3/Pt 4 PubMed: Del Doto 2019 Patient 4 (Pt 4) from Family 3: 2-generation family, 1 affected. M no Italy - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) ; Color vision defect (HP:0000551) ; Temporal optic disc pallor (HP:0012511) ; macular pucker (HP:0100014) ; Retinal pigment epithelial atrophy (HP:0007722); Stroke (HP:0001297); Reduced visual acuity (HP:0007663) 1 1 Mohamed Selhane
00418312 Family 4/Pt 5 PubMed: Del Doto 2019 Patient 5 (Pt 5) from Family 4: 3-generation family, 3 affected father and son/daughter, 1 death. M no Italy - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Color vision defect (HP:0000551); Optic disc pallor (HP:0000543); Macular dystrophy (HP:0007754); Abnormal foveal morphology (HP:0000493); Progressive visual loss (HP:0000529) 1 3 Mohamed Selhane
00418313 Family 4/Pt 6 PubMed: Del Doto 2019 Patient 6 (Pt 6) from Family 4: 3-generation family, 3 affected father and son/daughter, 1 death M no Italy - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); poor visual acuity (HP:0007663); Color vision defect (HP:0000551); Optic disc pallor (HP:0000543); Macular dystrophy (HP:0007754); Abnormal foveal morphology (HP:0000493); Hypercalcemia (HP:0003072) 1 1 Mohamed Selhane
00418314 Family 4/ Pt 7 PubMed: Del Doto 2019 Patient 7 (Pt 7) from Family 4: 3-generation family, 3 affected father and son/daughter, 1 death F no Italy - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Progressive visual loss (HP:0000529); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Macular dystrophy (HP:0007754); Abnormal foveal morphology (HP:0000493); Abnormality of the kidney (HP:0000077) 1 1 Mohamed Selhane
00418367 Family 5/ Pt 8 PubMed: Del Doto 2019 Patient 8 (Pt 8) from Family 5: 2-generation family, 1 affected (Pt 8), 1 death M no Austria - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Nephropathy (HP:0000112); Retinal degeneration (HP:0000546); Hearing impairment (HP:0000365); Ataxia (HP:0001251); Hypertrophic Cardiomyopathy (HP:0001639); Growth retardation (HP:0001510); Scoliosis (HP:0002650); Migraine (HP:0002076); Abnormality of cognition (HP:0100543) 1 1 Mohamed Selhane
00418643 Family 1/Pt 1 PubMed: Gustafson 2019 - M no China - - - - - neuropathy, optic Delayed speech and language development (HP:0000750); Anemia (HP:0001903); Bone marrow failure (HP:0005528); Growth delay (HP:0001510); Ataxia (HP:0001251); Failure to thrive (HP:0001508); Lacticacidemia (HP:0003128); Chronic kidney disease (HP:0012622); Rod-cone dystrophy (HP:0000510); Sensorineural hearing loss (HP:0000407); Ptosis (HP:0000508); Ophthalmoplegia (HP:0000602); Abnormal growth hormone level (HP:0032367); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal electroretinogram (HP:0000512); Abnormal thalamic MRI signal intensity (HP:0012696); Cerebral atrophy (HP:0002059); Attenuation of retinal blood vessels (HP:0007843); retinal dystrophy (HP:0000556) 1 1 Mohamed Selhane
00418649 Family 1/individual III:3 PubMed: Jurkute 2021 Patient III:3 from Family 1: 3-generation family, 3 affected father, son and daughter. M no - - - - - - neuropathy, optic Nystagmus (HP:0000639); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649); Abnormal rod and cone electroretinogram (HP:0008323); Delayed speech and language development (HP:0000750); Specific learning disability (HP:0001328); intention tremor (HP:0002080); Vertigo (HP:0002321); Fainting spell 5HP:0001279); Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703); Retinal pigment epithelial atrophy (HP:0007722); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Retinal dystrophy (HP:0000556); memory impairment (HP:0002354); Dysesthesia (HP:0012534) 2 3 Mohamed Selhane
00418681 Family 1/individual III:2 PubMed: Jurkute 2021 Patient III:2 from Family 1: 3-generation family, 3 affected father, son and daughter. F no - - - - - - neuropathy, optic Severely reduced visual acuity (HP:0001141); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Muscle fatigue (HP:0003750); Fatigable weakness (HP:0003473); Vertigo (HP:0002321); Nausea (HP:0002018); Dysesthesia (HP:0012534); Orthostatic tachycardia (HP:0012173); Attenuation of retinal blood vessels (HP:0007843); Dull foveal reflex (HP:0007750); Abnormal retinal nerve fiber layer morphology (HP:0020119); Abnormality of visual evoked potentials (HP:0000649); Abnormal P50/N95 ratio of pattern electroretinogram (HP:0030487); Undetectable visual evoked potentials (HP:0007965); Macular dystrophy (HP:0007754); Abnormal foveal morphology (HP:0000493); Migraine (HP:0002076); Anemia (HP:0001903); Asthma (HP:0002099); Anxiety (HP:0000739) 1 1 Mohamed Selhane
00418719 Family 1/ individual II:3 PubMed: Jurkute 2021 Patient II:3 from Family 1: 3-generation family, 3 affected father, son and daughter. M no - - - - - - neuropathy, optic Abnormal pattern electroretinogram (HP:0030467); Optic atrophy (HP:0000648); Myopia (HP:0000545); Reduced visual acuity (HP:0007663); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754) 1 1 Mohamed Selhane
00418753 Family 2/ Individual IV:1 PubMed: Jurkute 2021 Patient IV:1 from Family 2: 4-generation family, 3 affected great-grandmother, mother and daughter, 3 deaths F no Nigeria - - - - - neuropathy, optic Retinal pigment epithelial atrophy (HP:0007722); Abnormality of retinal pigmentation (HP:0007703); Attenuation of retinal blood vessels (HP:0007843); Rod-cone dystrophy (HP:0000510); Abnormal rod and cone electroretinogram (HP:0008323); Abnormal pattern electroretinogram (HP:0030467); Sensorineural hearing impairment (HP:0000407); Macular atrophy (HP:0007401); Optic atrophy (HP:0000648); Myopia (HP:0000545); Perifoveal ring of hyperautofluorescence (HP:0030629); Reduced visual acuity (HP:0007663) 1 1 Mohamed Selhane
00418754 family 3/ Individual III:3 PubMed: Jurkute 2021 Individual III:3 from Family 3: 3-generation family, 1 affected : son. M no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Attenuation of retinal blood vessels (HP:0007843); Rod-cone dystrophy (HP:0000510); Retinal dystrophy (HP:0000556); Myopia (HP:0000545); Scoliosis (HP:0002650); Febrile convulsion (HP:0002373); Abnormality of visual evoked potentials (HP:0000649); Abnormal pattern electroretinogram (HP:0030467); Nystagmus (HP:0000639); Reduced visual acuity (HP:0007663); Global development delay (HP:0001263) 1 1 Mohamed Selhane
00418755 Family 4/ Individual III:5 PubMed: Jurkute 2021 Individual III:5 from Family 4: 4-generation family, 1 affected : son, 6 deaths. M no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Retinal dystrophy (HP:0000556); Attenuation of retinal blood vessels (HP:0007843); Myopia (HP:0000545); Cataract (HP:0000518); Sensorineural hearing loss (HP:0000407); Poor coordination (HP:0002370); Coeliac disease (HP:0002608); Delayed speech and language development (HP:0000750); Reduced visual acuity (HP:0007663); Abnormality of retinal pigmentation (HP:0007703); Photoreceptor layer loss on macular OCT (HP:0030609) 2 1 Mohamed Selhane
00418756 Family 5/ individual II:4 PubMed: Jurkute 2021 Individual II:4 from Family 5: 3-generation family, 1 affected father, 4 deaths. M no - - - - - - neuropathy, optic Nyctalopia (HP:0000662); Retinal dystrophy (HP:0000556); Retinal pigment epithelial atrophy (HP:0007722); Photoreceptor layer loss on macular OCT (HP:0030609); Reduced visual acuity (HP:0007663) 1 1 Mohamed Selhane
00418764 Family A/ Pt V:9 PubMed: Piro 2020 PubMed: Meunier 2021 Patient (Pt) V:9 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - neuropathy, optic Color vision defect (HP:0000551); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512) 1 28 Mohamed Selhane
00418765 Family A/ Pt VI:14 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:14 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - neuropathy, optic - 1 1 Mohamed Selhane
00418766 Family A/ Pt VI:15 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:15 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - neuropathy, optic - 1 1 Mohamed Selhane
00418767 Family A/ Pt IV:6 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) IV:6 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data M no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Retinopathy (HP:0000488); temporal optic disc pallor (HP:0012511); Macular Drusen (HP:0030499); Photoreceptor layer loss on macular OCT (HP:0030609); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754) 1 1 Mohamed Selhane
00418786 Family A/ Pt V:13 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:13 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Abnormality of visual evoked potentials (HP:0000649); Dyschromatopsia (HP:0007641); Red-green dyschromatopsia (HP:0000642) 1 1 Mohamed Selhane
00418787 Family A/ Pt V:28 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:28 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); temporal optic disc pallor (HP:0012511); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649); Visual field defect (HP:0001123); Myopia (HP:0000545); Macular schisis (HP:0011511) 1 1 Mohamed Selhane
00418788 Family A/ Pt V:41 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:41 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Type 2 diabetes mellitus (HP:0005978); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649); Visual field defect (HP:0001123); Abnormality of ocular abduction (HP:0011347); Abnormal electroretinogram (HP:0000512); Macular dystrophy (HP:0007754); Abnormal foveal morphology (HP:0000493) 1 1 Mohamed Selhane
00418789 Family A/ Pt VI:8 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:8 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Color vision defect (HP:0000551); Visual field defect (HP:0001123); Blue-yellow dyschromatopsia (HP:0000552); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512); Reduced visual acuity (HP:0007663) 1 1 Mohamed Selhane
00418790 Family A/ Pt VI:19 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:19 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Blue-yellow dyschromatopsia (HP:0000552); Abnormality of visual evoked potentials (HP:0000649); Visual field defect (HP:0001123) 1 1 Mohamed Selhane
00418791 Family A/ Pt VI:20 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:20 from Family A: 7-generation family, at least 27 affected. M no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649) 1 1 Mohamed Selhane
00418792 Family A/ Pt VI:34 PubMed: Meunier 2021 Patient (Pt) VI:34 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Red-green dyschromatopsia (HP:0000642); Blue-yellow dyschromatopsia (HP:0000552); Abnormality of visual evoked potentials (HP:0000649); Abnormal foveal morphology (HP:0000493); Sensorineural hearing loss (HP:0000407); Photoreceptor layer loss on macular OCT (HP:0030609) 1 1 Mohamed Selhane
00418793 Family A/ Pt VI:35 PubMed: Meunier 2021 Patient (Pt) VI:35 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Red-green dyschromatopsia (HP:0000642); Nystagmus (HP:0000639); Abnormality of visual evoked potentials (HP:0000649)  1 1 Mohamed Selhane
00418794 Family A/ Pt VII:3 PubMed: Meunier 2021 Patient (Pt) VII:3 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Temporal optic disc pallor (HP:0012511); Visual field defect (HP:0001123); Blue-yellow dyschromatopsia (HP:0000552) 1 1 Mohamed Selhane
00418795 Family A/ Pt V:3 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:3 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663); Dyschromatopsia (HP:0007641); Visual field defect (HP:0001123); Abnormal electroretinogram (HP:0000512); Hypercalcemia (HP:0003072); Sleep apnea (HP:0010535); Intestinal polyp (HP:0005266); Raynaud disease (HP:0030880); Ventricular arrhythmia (HP:0004308); Right bundle branch block (HP:0011712); Osteopenia (HP:0000938); Venous insufficiency (HP:0005293); Bowel irritability (HP:0033628); Photoreceptor layer loss on macular OCT (HP:0030609); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754) 1 1 Mohamed Selhane
00418796 Family A/ Pt V:11 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:11 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512); Red-green dyschromatopsia (HP:0000642); Macular dystrophy (HP:0007754); Abnormal foveal morphology (HP:0000493) 1 1 Mohamed Selhane
00418797 Family A/ Pt V:39 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:39 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663); Hearing impairment (HP:0000365); Visual field defect (HP:0001123); Dyschromatopsia (HP:0007641); Abnormal electroretinogram (HP:0000512); Abnormality of visual evoked potentials (HP:0000649); Photoreceptor layer loss on macular OCT (HP:0030609); Abnormal foveal morphology (HP:0000493) 1 1 Mohamed Selhane
00418799 Family A/ Pt V:47 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:47 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649); Tachycardia (HP:0001649); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754) 1 1 Mohamed Selhane
00418800 Family A/ Pt VI:4 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:4 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Photoreceptor layer loss on macular OCT (HP:0030609); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754); Temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663); Abnormality of the cardiovascular system (HP:0001626) 1 1 Mohamed Selhane
00418801 Family A/ Pt VI:17 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:17 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Red-green dyschromatopsia (HP:0000642); Photoreceptor layer loss on macular OCT (HP:0030609); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754) 1 1 Mohamed Selhane
00418802 Family A/ Pt VI:21 PubMed: Piro 2020 PubMed: Meunier 2021 Patient (Pt) VI:21 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Blue-yellow dyschromatopsia (HP:0000552); Photoreceptor layer loss on macular OCT (HP:0030609); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754) 1 1 Mohamed Selhane
00418803 Family A/ Pt VI:24 PubMed: Piro 2020 PubMed: Meunier 2021 Patient (Pt) VI:24 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649); Blue-yellow dyschromatopsia (HP:0000552); Photoreceptor layer loss on macular OCT (HP:0030609); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754); Dull foveal reflex (HP:0007750) 1 1 Mohamed Selhane
00418808 Family A/ Pt VI:25 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:25 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Reduced visual acuity (HP:0007663); Blue-yellow dyschromatopsia (HP:0000552); Dull foveal reflex (HP:0007750); Photoreceptor layer loss on macular OCT (HP:0030609); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754) 1 1 Mohamed Selhane
00418809 Family A/ Pt VI:38 PubMed: Meunier 2021 Patient (Pt) VI:38 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Reduced visual acuity (HP:0007663); Red-green dyschromatopsia (HP:0000642); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512) 1 1 Mohamed Selhane
00418810 Family A/ Pt VII:1 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VII:1 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Temporal optic disc pallor (HP:0012511); Reduced visual acuity (HP:0007663); Photoreceptor layer loss on macular OCT (HP:0030609); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754) 1 1 Mohamed Selhane
00418811 Family A/ Pt VII:8 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VII:8 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Temporal optic disc pallor (HP:0012511); Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Abnormality of visual evoked potentials (HP:0000649) 1 1 Mohamed Selhane
00419680 Family A/ Pt IV:17 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) IV:17 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649); Dyschromatopsia (HP:0007641); Abnormal multifocal electroretinogram (HP:0030468); Large central visual field defect (HP:0001129); Deafness (HP:0000365); Abnormal mitral valve morphology (HP:0001633); Abnormality of equilibrium (HP:0002141); Abnormal macular morphology (HP:0001103); Photophobia (HP:0000613); Pontocerebellar atrophy (HP:0006879); Hypercholesterolemia (HP:0003124) 1 1 Mohamed Selhane
00419682 Family A/Pt V:42 PubMed: Meunier 2021 Patient (Pt) V:42 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512); Diabetes mellitus (HP:0000819) 1 1 Mohamed Selhane
00419684 Family B/Pt III:1 PubMed: Piro 2020 Patient III:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter. F no Germany - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Reduced visual acuity (HP:0007663); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754) 1 4 Mohamed Selhane
00419727 Family B/Pt I:1 PubMed: Piro 2020 Patient I:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter. M ? Germany - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) 1 1 Mohamed Selhane
00419728 Family B/Pt II:1 PubMed: Piro 2020 Patient II:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter. M no Germany - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) 1 1 Mohamed Selhane
00419729 Family B/Pt III:2 PubMed: Piro 2020 Patient I:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter. F no Germany - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Reduced visual acuity (HP:0007663); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754) 1 1 Mohamed Selhane
00419730 Family C/Pt I PubMed: Piro 2020 Patient (Pt) I from Family C: 2-generation family 1 affected. M no Germany - - - - - neuropathy, optic Optic atrophy (HP:0000648) ; Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663) 1 1 Mohamed Selhane
00419731 Family D/Pt I PubMed: Piro 2020 Patient (Pt) I from Family D: 4-generation family 5 affected, great grandfather, grandmother, great-uncle, mother and son F no Germany - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Colour vision defect (HP:0000551) 1 2 Mohamed Selhane
00419908 Family D/Pt II PubMed: Piro 2020 Patient (Pt) II from Family D: 4-generation family 5 affected, great grandfather, grandmother, great-uncle, mother and son M no Germany - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) 1 1 Mohamed Selhane
00419909 Family E/Pt I PubMed: Piro 2020 Patient (Pt) I from Family E: 2-generation family 1 affected, daughter. F - Germany - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Color vision defect (HP:0000551)  1 1 Mohamed Selhane
00419910 Family 1/ individual III:1 (IR_GH_0183) PubMed: Jun 2022 Patient (Pt) III:1 from Family 1: 3-generation family 4 affected, grandfather, mother, uncle, daughter and son Updated by the curator from the published article. Originally submitted by Dr. Jinu Han (Institute Yonsei University College of Medicine, Department of Ophthalmology, KR) with ID_report: IR_GH_0183. M no Korea, South (Republic) - - - - - neuropathy, optic Reduced visual acuity (HP:0007663); Very low visual acuity (HP:0032122); Photophobia (HP:0000613); Large central visual field defect (HP:0001129); Color vision defect (HP:0000551); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) 1 3 Jinu Han
00419912 Family 1/ individual II:4 (IR_GH_0183) PubMed: Jun 2022 Patient (Pt) II:4 from Family 1: 3-generation family 4 affected, grandfather, mother, uncle, daughter and son. Updated by the curator from the published article. Originally submitted by Dr. Jinu Han (Institute Yonsei University College of Medicine, Department of Ophthalmology, KR) with ID_report: IR_GH_0183. F no Korea, South (Republic) - - - - - neuropathy, optic Reduced visual acuity (HP:0007663); Very low visual acuity (HP:0032122); Photophobia (HP:0000613); Large central visual field defect (HP:0001129); Color vision defect (HP:0000551); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) 1 1 Jinu Han
00419913 Family 1/ individual III:2 PubMed: Jun 2022 Patient (Pt) III:2 from Family 1: 3-generation family 4 affected, grandfather, mother, uncle, daughter and son F no Korea, South (Republic) - - - - - neuropathy, optic Unaffected (HP:0032321) 1 1 Mohamed Selhane
00419914 Family 1/Pt III:8 PubMed: Jurkute 2019 Patient (Pt) III:8 from Family 1: 5-generation family, 23 affected. M no - - - - - - neuropathy, optic Abnormality of retinal pigmentation (HP:0007703); Attenuation of retinal blood vessels (HP:0007843); Color vision defect (HP:0000551); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Nephropathy (HP:0000112) 1 11 Mohamed Selhane
00419915 Family 1/Pt III:16 PubMed: Jurkute 2019 Patient (Pt) III:16 from Family 1: 5-generation family, 23 affected. M no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Attenuation of retinal blood vessels (HP:0007843); Reduced visual acuity (HP:0007663) 1 1 Mohamed Selhane
00419916 Family 1/Pt IV:3 PubMed: Jurkute 2019 Patient (Pt) IV:3 from Family 1: 5-generation family, 23 affected. F no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Nephropathy (HP:0000112); Reduced visual acuity (HP:0007663); Chronic kidney disease (HP:0012622) 1 1 Mohamed Selhane
00419917 Family 1/Pt IV:7 PubMed: Jurkute 2019 Patient (Pt) IV:3 from Family 1: 5-generation family, 23 affected. M no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Color vision defect (HP:0000551) 1 1 Mohamed Selhane
00419918 Family 1/Pt IV:8 PubMed: Jurkute 2019 Patient (Pt) IV:8 from Family 1: 5-generation family, 23 affected. F no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663) 1 1 Mohamed Selhane
00419919 Family 1/Pt IV:12 PubMed: Jurkute 2019 Patient (Pt) IV:12 from Family 1: 5-generation family, 23 affected. F no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); abnormal rod and cone electroretinogram (HP:0008323); Abnormal electroretinogram (HP:0000512); Undetectable visual evoked potentials (HP:0007965); Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703); Abnormal foveal morphology (HP:0000493); Hypothyroidism (HP:0000821); Macular dystrophy (HP:0007754) 1 1 Mohamed Selhane
00419920 Family 1/Pt IV:14 PubMed: Jurkute 2019 Patient (Pt) IV:14 from Family 1: 5-generation family, 23 affected. F no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormal electroretinogram (HP:0000512); Undetectable visual evoked potentials (HP:0007965); Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703); Abnormal foveal morphology (HP:0000493); Hypothyroidism (HP:0000821); Macular dystrophy (HP:0007754) 1 1 Mohamed Selhane
00419921 Family 1/Pt IV:18 PubMed: Jurkute 2019 Patient (Pt) IV:18 from Family 1: 5-generation family, 23 affected. F no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754); Chronic kidney disease (HP:0012622); Hypothyroidism (HP:0000821) 1 1 Mohamed Selhane
00419922 Family 1/Pt V:2 PubMed: Jurkute 2019 Patient (Pt) V:2 from Family 1: 5-generation family, 23 affected. F no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormal electroretinogram (HP:0000512); Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703); Abnormality of visual evoked potentials (HP:0000649); Nystagmus (HP:0000639) 1 1 Mohamed Selhane
00419923 Family 1/Pt V:5 PubMed: Jurkute 2019 Patient (Pt) V:5 from Family 1: 5-generation family, 23 affected. M no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); abnormal rod and cone electroretinogram (HP:0008323); Abnormal electroretinogram (HP:0000512); Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703); Abnormal P50/N95 ratio of pattern electroretinogram (HP:0030487); Abnormality of visual evoked potentials  (HP:0000649); Color vision defect (HP:0000551); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754); Asthma (HP:0002099) 1 1 Mohamed Selhane
00419924 Family 1/Pt V:12 PubMed: Jurkute 2019 Patient (Pt) V:12 from Family 1: 5-generation family, 23 affected. M no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormal electroretinogram (HP:0000512); Abnormal P50/N95 ratio of pattern electroretinogram (HP:0030487); Abnormality of visual evoked potentials (HP:0000649); Attenuation of retinal blood vessels (HP:0007843); Color vision defect (HP:0000551); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754) 1 1 Mohamed Selhane
00419925 Family 2/Pt II:2 PubMed: Jurkute 2019 Patient II:2 (Pt II:2) from Family 2: 3-generation family, 5 affected, 2 deaths. M no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormality of retinal pigmentation (HP:0007703); Abnormality of visual evoked potentials (HP:0000649); Color vision defect (HP:0000551) 1 5 Mohamed Selhane
00419926 Family 2/Pt III:1 PubMed: Jurkute 2019 Patient III:1 (Pt III:1) from Family 2: 3-generation family, 5 affected, 2 deaths. M no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Color vision defect (HP:0000551) 1 1 Mohamed Selhane
00419927 Family 2/Pt III:4 PubMed: Jurkute 2019 Patient III:4 (Pt III:4) from Family 2: 3-generation family, 5 affected, 2 deaths. M no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormality of retinal pigmentation (HP:0007703); Abnormality of visual evoked potentials (HP:0000649); Color vision defect (HP:0000551) 1 1 Mohamed Selhane
00446648 Family 2/Pt II:4 PubMed: Jurkute 2019 Patient II:4 (Pt II:4) from Family 2: 3-generation family, 5 affected, 2 deaths. NOTE : The ID (Family 2/Pt II:4) of this person has been updated from that originally published with the approval of the authors. Compared to what was initially published: individual 2-3 should be 2-4 (male) M no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663) ; Abnormality of retinal pigmentation (HP:0007703); Abnormality of visual evoked potentials (HP:0000649); Color vision defect (HP:0000551); Hypertension (HP:0000822) 1 1 Mohamed Selhane
00446649 Family 2/Pt II:7 PubMed: Jurkute 2019 Patient II:7 (Pt II:7) from Family 2: 3-generation family, 5 affected, 2 deaths. NOTE : The ID (Family 2/Pt II:7) of this person has been updated from that originally published with the approval of the authors. Compared to what was initially published: individual 2-4 should be 2-7 (female). F no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Color vision defect (HP:0000551) 1 1 Mohamed Selhane
00446650 Family 3/Pt II:3 PubMed: Jurkute 2019 Patient II:3 (Pt III:4) from Family 3: 3-generation family, 1 affected, 3 deaths. M no - - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormality of retinal pigmentation (HP:0007703); Abnormality of visual evoked potentials (HP:0000649); Abnormal P50/N95 ratio of pattern electroretinogram (HP:0030487); Color vision defect (HP:0000551); Abnormal rod and cone electroretinogram (HP:0008323); Attenuation of retinal blood vessels (HP:0007843) 1 1 Mohamed Selhane
00446651 Family 4/Pt II:1 PubMed: Jurkute 2019 Patient II:1 (Pt II:1) from Family 4 : 2-generation family, 1 affected, 2 deaths. M no - - - - - - neuropathy, optic optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) 1 1 Mohamed Selhane
00447225 OAK-754 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 1 1 Johan den Dunnen
00452949 Family 1/ Pt II:1 PubMed: Chang 2023 Patient II:1 (Pt II:1) from Family 1 : 2-generation family, 2 affected M no Taiwan - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663) ; Abnormality of retinal pigmentation (HP:0007703); Abnormality of visual evoked potentials (HP:0000649); Color vision defect (HP:0000551); Abnormal electroretinogram (HP:0000512); Attenuation of retinal blood vessels (HP:0007843) 1 2 Mohamed Selhane
00452950 Family 1/ Pt I:1 PubMed: Chang 2023 Patient I:1 (Pt II:1) from Family 1 : 2-generation family, 2 affected, mother and son F no Taiwan - - - - - neuropathy, optic Reduced visual acuity (HP:0007663) 1 1 Mohamed Selhane
00453452 - - At least two patients are affected in this family. A proband and his paternal aunt. M ? France - - - - - neuropathy, optic Sensorineural hearing impairment (HP:0000407); Optic neuropathy (HP:0001138) 1 2 Mohamed Selhane
00453453 - - At least two patients are affected in this family. A proband and his paternal aunt. Suspicion of hereditary optic neuropathy. But INFORMATION ON THE ASSOCIATED PHENOTYPES IS INCOMPLETE. F - France - - - - - neuropathy, optic Sensorineural hearing impairment (HP:0000407) 1 1 Mohamed Selhane
00453454 - - - M no France - - - - - neuropathy, optic Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512) 1 1 Mohamed Selhane
00455617 FamAPatII3 PubMed: Kullar 2018 large 4-generation family of 46, 19 affected (6F, 13M) M ? Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 19 Mohamed Selhane
00455672 FamAPatII9 PubMed: Kullar 2018 sister F ? Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00455673 FamAPatIII2 PubMed: Kullar 2018 relative M no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00455674 FamAPatIII6 PubMed: Kullar 2018 relative M no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00455675 FamAPatIII10 PubMed: Kullar 2018 relative M no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00455676 FamAPatIII11 PubMed: Kullar 2018 relative M no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00459748 FamAPatIII5 PubMed: Kullar 2018 relative F no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00459773 FamAPatIII9 PubMed: Kullar 2018 relative F no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00459774 FamAPatIV2 PubMed: Kullar 2018 relative F no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00459775 FamAPatIV4 PubMed: Kullar 2018 relative M no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00459776 FamAPatIV5 PubMed: Kullar 2018 relative M no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00459777 FamAPatIV6 PubMed: Kullar 2018 relative M no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00459778 FamAPatIII8 PubMed: Kullar 2018 relative F no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00459779 FamBPatII2 PubMed: Kullar 2018 relative F no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00459780 FamBPatII3 PubMed: Kullar 2018 relative M no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00459781 FamBPatIV3 PubMed: Kullar 2018 relative M no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00459782 FamBPatIV6 PubMed: Kullar 2018 relative M no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00459783 FamBPatIV7 PubMed: Kullar 2018 relative M - Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00459784 FamBPatIV9 PubMed: Kullar 2018 relative M - Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00459785 Family D/Pt I:1 PubMed: Kullar 2018 - M no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00459786 FamEPatI1 PubMed: Kullar 2018 - M no Finland - - - - - deafness, nonsyndromic sensorineural, mitochondrial Sensorineural hearing loss (HP:0000407) 1 1 Mohamed Selhane
00461281 F133P143II-2 PubMed: Zheng 2024 family, 4 affected M - China - - - - - OPA see paper; ..., congenital onset; best corrected visual acuity (first visit) OD 0.05/OS 0.04; fundus oculi (first visit) OD diffuse pale optic disc, ARV, TD/OS diffuse pale optic disc, ARV, tapetoretinal degeneration; OCT OD diffuse thinning/OS diffuse thinning; electrophysiology severely reduced (rod/cone); 1 4 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.