Global Variome shared LOVD

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

Phenotype #0000326933 Individual ID 00436931 Associated disease NEM2 Phenotype details neonatal hypotonia (HP:0001319); reduced tendon reflexes (HP:0001315); proximal muscle weakness (HP:0003701) Diagnosis/Initial Nemaline myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite Nemaline myopathy Age/Examination 01y (1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lydia Sagath Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Lydia Sagath Date created 2023-10-11 17:01:47 +02:00 (CEST) Date last edited 2023-10-12 11:29:58 +02:00 (CEST)

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