Abnormality of visual evoked potentials (Concept Id | 合法醫療器材資訊網

SNOMEDCT:Abnormalvisualevokedpotential(102968003).HPO:HP:...GTR;MeSH.CClinicaltest,RResearchtest,OOMIM,GGeneReviews,VClinVar.

POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive ...