Disease #00038

Official abbreviation LS
Name Leigh syndrome (LS)
OMIM ID 256000
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 14
Phenotype entries for this disease 14
Associated with 16 genes BCS1L, COX10, COX15, FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1
Associated tissues -
Disease features -
Remarks -


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00004537 - - - F no United Kingdom (Great Britain) Caucasian (white) - 0 - - LS NDUFS2 NDUFS2 2 1 Robert McFarland
00004538 - - - F no United Kingdom (Great Britain) Caucasian - 0 - - LS NDUFS2 NDUFS2 2 1 Robert McFarland
00004539 - - - M no United Kingdom (Great Britain) Caucasian - 0 - - LS NDUFV1 NDUFV1 2 1 Robert McFarland
00072357 - - OMIM600857:0002; 1 isolated case - - - - - 0 - - LS SDHA SDHA 2 1 Tonino Ercolino
00072358 - - 1 isolated case - - - - - 0 - - LS SDHA SDHA 2 1 Jean-Pierre Bayley
00072360 - - OMIM600857:0001; 1 family 2 affected - - - - - 0 - - LS SDHA SDHA 2 1 Tonino Ercolino
00072361 - - OMIM600857:0004 - - - - - 0 - - LS SDHA SDHA 2 1 Tonino Ercolino
00073073 - - 1 isolated case - - - - - 0 - - LS SDHA SDHA 1 1 Jean-Pierre Bayley
00073096 - - - - - - - - 0 - - LS SDHA SDHA 2 1 Herma Renkema
00073097 - - - - - - - - 0 - - LS SDHA SDHA 2 1 Herma Renkema
00073099 - - This patient is the same as described by {PMID16361598:Horvath et al. (2006)} - - - - - 0 - - LS SDHA SDHA 2 1 Herma Renkema
00080808 - Trujillano et al., submitted unaffected parents - - - - - 0 - - LS SURF1 SURF1 1 1 Daniel Trujillano
00080983 - Trujillano et al., submitted unaffected parents - - - - - 0 - - LS NDUFS4 NDUFS4 1 1 Daniel Trujillano
00087078 - - leighs (SURF1) - - - - - 0 - - LS SURF1 SURF1 1 1 Sudha Kohli
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