Global Variome shared LOVD

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

Phenotype #0000084284 Individual ID 00106480 Associated disease MYOP Phenotype details congenital myopathy with CFTD; decreased fetal movements, hypotonia, delayed motor milestones, joint laxity; muscle weakness: facial, axial, proximal mostly; CPK: normal Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset >1m Phenotype/Onset - Protein - Owner name Thomas Cullup Database submission license No license selected Created by Thomas Cullup Date created 2013-01-31 17:43:45 +01:00 (CET) Date last edited 2013-01-31 21:33:36 +01:00 (CET)

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