Disease #03842 (MC3DN-2 (mitochondrial complex III deficiency, nuclear type 2 (MC3DN-2)), OMIM:615157)

Official abbreviation MC3DN-2
Name mitochondrial complex III deficiency, nuclear type 2 (MC3DN-2)
OMIM ID 615157
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene TTC19
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Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00117528 21278747-Fam1Pat4 PubMed: Ghezzi 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - 0 - - MC3DN-2 see paper; mitochondrial complex III deficiency, … TTC19 TTC19 1 1 Johan den Dunnen
00117529 21278747-Fam1Pat1 PubMed: Ghezzi 2011 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents F no Italy - - 0 - - MC3DN-2 see paper; mitochondrial complex III deficiency, … TTC19 TTC19 1 2 Johan den Dunnen
00117530 21278747-Fam1Pat2 PubMed: Ghezzi 2011 brother Pat1 M no Italy - - 0 - - MC3DN-2 see paper; mitochondrial complex III deficiency, … TTC19 TTC19 1 1 Johan den Dunnen
00117531 21278747-Fam1Pat3 PubMed: Ghezzi 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - - 0 - - MC3DN-2 see paper; mitochondrial complex III deficiency, … TTC19 TTC19 1 1 Johan den Dunnen
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