Disease #01982

Official abbreviation PEOB-1
Name ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal recessive, type 1 (PEOB-1)
OMIM ID 258450
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene POLG
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Individuals

1 entry on 1 page. Showing entry 1.
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00080863 - Trujillano et al., submitted unaffected parents - - - - - 0 - - PEOB-1 Progressive external ophthalmoplegia, autosomal recessive 1 (OMIM:258450) POLG POLG 1 1 Daniel Trujillano
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