Global Variome shared LOVD

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Phenotype #0000228710 Individual ID 00301598 Associated disease OPML Diagnosis/Initial oculopharyngeal myopathy with leukoencephalopathy Diagnosis/Definite OPML1 Phenotype details leukoencephalopathy, MRI brain increased DWI signal intensity frontal corticomedullary junctions, ptosis, restricted eye movements, dysphagia, dysarthria, diffuse limb muscle weakness with nonspecific myopathic changes in muscle biopsy specimens; severe gastrointestinal dysmotility (III3/6), respiratory failure (III3/6); mild ataxia (III3), bladder disturbances (III3), dilated cardiomyopathy (III3); hand tremor (III5) Inheritance Familial, autosomal dominant Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-19 08:56:32 +02:00 (CEST) Date last edited N/A

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