Global Variome shared LOVD

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

Phenotype #0000023239 Individual ID 00027168 Associated disease NEM Phenotype details typical congenital nemaline myopathy; alive (10y); polyhydramnios, decreased fetal movements, bulbar weakness, ophthalmoplegia, percutaneous endoscopic gastrostomy, nocturnal noninvasive ventilation.; walks independently; normal cardiac assessment and echocardiogram Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - 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 2014-12-22 16:45:30 +01:00 (CET) Date last edited N/A

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