Disease #00147 (LS (Leigh Syndrome), OMIM:256000)

Official abbreviation LS
Name Leigh Syndrome
OMIM ID 256000
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene SURF1
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
Legend   How to query  

AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Remarks     

Microattribution     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000763 Al Kartikasalwah et al.(2010) M Malaysia - - - - LS MRI of the brain showed foci of discrete, bilaterally symmetric lesions in the basal ganglia, brain stem and dentate nuclei. SURF1 SURF1 2 1 Nur Aisyah Athirah
Legend   How to query