All diseases

4 entries on 1 page. Showing entries 1 - 4.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00104 603358 GRACILE syndrome, 603358 (3) 603358 0 0 BCS1L - -
00084 BJS Bjornstad syndrome, 262000 (3) 262000 0 0 BCS1L - -
00015 LS Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) 256000 0 0 BCS1L, COX10, COX15, FOXRED1, MT-ATP6, MT-TK, MT-TV, MT-TW, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1 - -
00017 MC3DN1 Mitochondrial complex III deficiency, nuclear type 1, 124000 (3) 124000 0 0 BCS1L, UQCRB - -