Disease #03841 (PEOA6 (ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 6 (PEOA-6)), OMIM:615156)

Official abbreviation PEOA6
Name ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 6 (PEOA-6)
OMIM ID 615156
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene DNA2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00436392 268343 - - M no Germany - - - - - PEOA6 Elevated circulating creatine kinase concentration, Myalgia, Triggered by febrile illness DNA2 DNA2 1 1 Andreas Laner
00436395 243726 - - F no Germany - - - - - PEOA6 External ophthalmoplegia, Facial muscle weakness, mtDNA deletions seen on muscle biopsy DNA2 DNA2 1 1 Andreas Laner
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