All individuals with variants in gene SURF1

40 entries on 1 page. Showing entries 1 - 40.
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AscendingIndividual ID     
ID_report     
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VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00037218 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037219 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037220 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037221 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00080808 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - LS Leigh syndrome, COX IV deficiency (OMIM:256000) 1 1 Daniel Trujillano
00087078 - - leighs (SURF1) - - - - - - - - LS Leigh's disease 1 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00087101 - - - M yes India - - - - - - - 1 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00152532 - - - F - (Germany) - - - - - ? Mitochondrial encephalopathy (HP:0006789); Lactic acidosis (HP:0003128) 2 1 IMGAG
00205135 - - - F - United States white - - - - LS Hypotonia, ataxia, ophthalmoplegia,nystagmus 2 1 Inn-Chi Lee
00205136 - - - - - - - - - - - LS - 1 1 Inn-Chi Lee
00205137 - - - F - United States Pakistani 3y6m - - - LS Hypotonia, ataxia, myoclonic jerks, extrapyramidal movements 1 1 Inn-Chi Lee
00205138 - - - M - United States white - - - - LS Hypotonia, ataxia, dystonia, Cerebellum, brainstem, and basal ganglia in MRI 1 1 Inn-Chi Lee
00205139 - - - - - - - - - - - LS atypical 1 1 Inn-Chi Lee
00205140 - - - - - (Taiwan) - - - - - LS hypotonia, ataxia, apnea 1 1 Inn-Chi Lee
00205141 - - - - ? - - - - - - LS - 1 1 Carl Fratter
00205142 - - - - ? - - - - - - LS - 1 1 Carl Fratter
00205143 - - - - ? - - - - - - LS - 1 1 Carl Fratter
00205144 - - - - ? - - - - - - LS - 1 1 Carl Fratter
00205145 - - - - - - - - - - - LS atypical 1 1 Inn-Chi Lee
00205146 - - - F - (United States) Asian - - - - LS atypical / Hypotonia, microcephaly, Leucodystrophy in MRI 1 1 Inn-Chi Lee
00205147 - - - - ? - - - - - - LS - 1 1 Carl Fratter
00205148 - - - - - - - - - - - LS Hypotonia, ataxia, nystagmus 1 1 Inn-Chi Lee
00205149 - - Lactic acidosis, increased pyruate, seiuzre M - United States white/Asian - - - - LS abnormal MRI in basal ganglia 2 1 Inn-Chi Lee
00205150 - - - - - - - - - - - LS - 2 1 Inn-Chi Lee
00205151 - - - - - - - - - - - LS Down syndrome, cardiovascular malformations, vertebral anomalies, hypotonia, muscle weakness, swallowing difficulties 1 1 Inn-Chi Lee
00205152 - - - - ? - - - - - - LS - 1 1 Carl Fratter
00205153 - - 1 Family, 2 patients - yes - - - - - - LS - 1 2 Carl Fratter
00205154 - - - - - - - - - - - LS atypical 1 1 Inn-Chi Lee
00205155 - - - - - - - - - - - LS - 1 1 Inn-Chi Lee
00205156 - - - F - United States - - - - - LS - 1 1 Inn-Chi Lee
00207784 - - - M - Germany - - - - - - HP:0100022 (Abnormality of movement) 1 1 Andreas Laner
00228779 - - - F - China - - - - - LS failure to thrive,psychomotor regression,seizures and vomiting,increased lactate 1 1 Wenjuan Qiu
00294788 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00374517 S-3181 PubMed: Ganapathy 2019 - - - India - - - - - ? Floppiness and inability to walk 1 1 Johan den Dunnen
00374518 S-3233 PubMed: Ganapathy 2019 - - - India - - - - - ? Hypotonia in upper and lower limbs, developmental delay, mild facial dysmorphism and decreased reflexes. MRI showed bilateral cerebellar subcortical white matter with bilateral caudate lentiform 1 1 Johan den Dunnen
00387876 M9000065 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes - Arab - - - - ID syndromic intellectual disability, no microcephaly 1 2 Johan den Dunnen
00398239 FamPatII10 PubMed: Echaniz-Laguna 2013 2 generation family, 12 siblings, 2 affected (F, M) M yes France Algeria >42y - ? - CMT see paper; ..., born at term, normal pregnancy, normal psychomotor development (-HP:0001263); 12m-walk; easy fatigability (HP:0003388); kyphoscoliosis (HP:0002571); hand muscle atrophy (HP:0009130); araflexia (HP:0001284); impaired pain sensation (HP:0007328); impaired vibration sensation lower limbs (HP:0002166); horizontal nystagmus (HP:0000666); hearing impairment (HP:0000365) 1 2 Maeve Soen
00398311 FamPatII2 PubMed: Echaniz-Laguna 2013 older sister F yes France Algeria >57y - - - CMT see paper; ..., easy fatigability (HP:0003388); kyphoscoliosis (HP:0002571); muscle atrophy (HP:0009130); araflexia HP:0001284); impaired pain sensation (HP:0007328); impaired vibration sensation lower limbs (HP:0002166); ataxia (HP:0001251); horizontal nystagmus (HP:0000666); hearing impairment (HP:0000365) 1 1 Maeve Soen
00398350 Fam2Pat PubMed: Echaniz-Laguna 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F no France - - - - - CMT see paper; ..., hand muscle atrophy (HP:0009130); araflexia (HP:0001284); impaired pain sensation (HP:0007328); impaired vibration sensation lower limbs (HP:0002166); abnormal brainstem morphology (HP:0002363); ataxia (HP:0001251) 2 1 Maeve Soen
00443912 - - unaffected heterozygous carrier parents F no Brazil latin american - - - none CPEO ptosis (HP:0000508), Respiratory insufficiency due to muscle weakness (HP:0002747); Global developmental delay(HP:0001263); Hypotonia (HP:0001252) ;Weakness of facial musculature(HP:0030319); Ophthalmoparesis (HP:0000597); High palate (HP:0000218 2 1 Beatriz Betini
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