All diseases

6 entries on 1 page. Showing entries 1 - 6.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00036 BJS Bjornstad syndrome (BJS) 262000 AR - - BCS1L - -
00039 GRACILE GRACILE syndrome 603358 AR - - BCS1L - -
00139 ID intellectual disability (ID) - - 2792 2473 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 556 more - -
00038 LS Leigh syndrome (LS) 256000 AR;Mi 72 62 BCS1L, C17orf89, COX10, COX15, FASTKD5, FOXRED1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1 - -
05452 MC3DN mitochondrial complex III deficiency, nuclear (MC3DN)] - - 4 4 BCS1L, C11orf83, CYC1, LYRM7, MNF1, TTC19, UQCRB, UQCRC2, UQCRFS1, UQCRQ - -
00037 MC3DN1 mitochondrial complex III deficiency, nuclear, type 1 (MC3DN-1)] 124000 AR 1 1 BCS1L - -
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