Name Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Synonyms PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 4
Classification eye, genetic, metabolism, neurological
Phenotypes Abnormality of the liver; Adult onset; Arrhythmia; Autosomal dominant inheritance; Cerebellar atrophy; Cerebral visual impairment; Constipation; Cytochrome C oxidase-negative muscle fibers; Elevated hepatic transaminase; Elevated serum creatine kinase; Exercise intolerance; Facial palsy; Failure to thrive; Gastroesophageal reflux; Gastroparesis; Generalized hypotonia; Global developmental delay; Impaired glucose tolerance; Increased serum lactate; Limb muscle weakness; Multiple mitochondrial DNA deletions; Myalgia; Progressive; Progressive external ophthalmoplegia; Progressive muscle weakness; Ptosis; Seizure; Variable expressivity
Associated Genes POLG2 (Withdrawn symbols: HP55, MTPOLB )
Mouse Orthologs Polg2
Source
OMIM:610131 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)