Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000058655 Individual ID 00078899 Associated disease MYOP Phenotype details myopathy, congenital; no progression; diffuse weakness; no eye muscle involvement, no respiratory involvement, no cardiac involvement; delayed cognitive development; prominent myalgias; no EMG; type I fiber predominance, core-like areas, central nuclei 10% fibers; mild MR; normal CPK (-HP:0003236); DES diffusely positive cytoplasmic staining Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset neonatal hypotonia, delayed motor development Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-09-07 15:20:17 +02:00 (CEST) Date last edited 2012-09-07 15:29:21 +02:00 (CEST)

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