Disease #05316 (COXPD (combined oxidative phosphorylation deficiency))

Official abbreviation COXPD
Name combined oxidative phosphorylation deficiency
OMIM ID -
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Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 0 genes -
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00117123 25058219-Pat29 PubMed: Taylor 2014 family, 2 affecteds M - United Kingdom (Great Britain) - 10y 0 - - COXPD see paper; ... VARS2 VARS2 2 2 Johan den Dunnen
00183079 23814038-Fam PubMed: Lim 2013, Journal: Lim 2013 4-generation family, 2 affected (F, M), unaffected heterozygous carrier relatives F;M yes Lebanon;Syria - - 0 - - COXPD see paper; ... LYRM4 LYRM4 1 1 Johan den Dunnen
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