Global Variome shared LOVD

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

Phenotype #0000117227 Individual ID 00144462 Associated disease CNM2 Phenotype details reduced fetal movements, oligohydramnios, intra-uterine growth retardation; muscle weakness proximal, slowly progressive, ptosis, contractures at birth, normal intelligence Diagnosis/Initial myopathy, centronuclear Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 1d Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-03-12 10:36:48 +01:00 (CET) Date last edited 2012-03-04 15:55:44 +01:00 (CET)

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