Global Variome shared LOVD

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

Phenotype #0000332102 Individual ID 00442755 Associated disease NMD Diagnosis/Initial hypotonia Diagnosis/Definite - Phenotype details hypotonia, foetal akinesie, high-arched palate, arthrogryposis,severe contractures, rod-like inclusies, suggestive of nemaline myopathy Inheritance Unknown 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 2023-11-23 18:48:51 +01:00 (CET) Date last edited N/A

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