All individuals with variants in gene SURF1

33 entries on 1 page. Showing entries 1 - 33.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00037218 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037219 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037220 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037221 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00080808 - Trujillano et al., submitted unaffected parents - - - - - 0 - - LS Leigh syndrome, COX IV deficiency (OMIM:256000) 1 1 Daniel Trujillano
00087078 - - leighs (SURF1) - - - - - 0 - - LS Leigh's disease 1 1 Sudha Kohli
00087101 - - - M yes India - - 0 - - - - 1 1 Sudha Kohli
00152532 - - - F - (Germany) - - 0 - - ? Mitochondrial encephalopathy (HP:0006789); Lactic acidosis (HP:0003128) 2 1 IMGAG
00205135 - - - F - United States Caucasian - 0 - - LS Hypotonia, ataxia, ophthalmoplegia,nystagmus 2 1 Inn-Chi Lee
00205136 - - - - - - - - 0 - - LS - 1 1 Inn-Chi Lee
00205137 - - - F - United States Pakistani 3y6m 0 - - LS Hypotonia, ataxia, myoclonic jerks, extrapyramidal movements 1 1 Inn-Chi Lee
00205138 - - - M - United States Caucasian - 0 - - LS Hypotonia, ataxia, dystonia, Cerebellum, brainstem, and basal ganglia in MRI 1 1 Inn-Chi Lee
00205139 - - - - - - - - 0 - - LS atypical 1 1 Inn-Chi Lee
00205140 - - - - - (Taiwan) - - 0 - - LS hypotonia, ataxia, apnea 1 1 Inn-Chi Lee
00205141 - - - - ? ? (unknown) - - 0 - - LS - 1 1 Carl Fratter
00205142 - - - - ? ? (unknown) - - 0 - - LS - 1 1 Carl Fratter
00205143 - - - - ? ? (unknown) - - 0 - - LS - 1 1 Carl Fratter
00205144 - - - - ? ? (unknown) - - 0 - - LS - 1 1 Carl Fratter
00205145 - - - - - - - - 0 - - LS atypical 1 1 Inn-Chi Lee
00205146 - - - F - (United States) Asian - 0 - - LS atypical / Hypotonia, microcephaly, Leucodystrophy in MRI 1 1 Inn-Chi Lee
00205147 - - - - ? ? (unknown) - - 0 - - LS - 1 1 Carl Fratter
00205148 - - - - - - - - 0 - - LS Hypotonia, ataxia, nystagmus 1 1 Inn-Chi Lee
00205149 - - Lactic acidosis, increased pyruate, seiuzre M - United States Caucasian/Asian - 0 - - LS abnormal MRI in basal ganglia 2 1 Inn-Chi Lee
00205150 - - - - - - - - 0 - - LS - 2 1 Inn-Chi Lee
00205151 - - - - - - - - 0 - - LS Down syndrome, cardiovascular malformations, vertebral anomalies, hypotonia, muscle weakness, swallowing difficulties 1 1 Inn-Chi Lee
00205152 - - - - ? ? (unknown) - - 0 - - LS - 1 1 Carl Fratter
00205153 - - 1 Family, 2 patients - yes ? (unknown) - - 0 - - LS - 1 2 Carl Fratter
00205154 - - - - - - - - 0 - - LS atypical 1 1 Inn-Chi Lee
00205155 - - - - - - - - 0 - - LS - 1 1 Inn-Chi Lee
00205156 - - - F - United States - - 0 - - LS - 1 1 Inn-Chi Lee
00207784 - - - M - Germany - - 0 - - - HP:0100022 (Abnormality of movement) 1 1 Andreas Laner
00228779 - - - F - China - - 0 - - LS failure to thrive,psychomotor regression,seizures and vomiting,increased lactate 1 1 Wenjuan Qiu
00294788 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
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