Global Variome shared LOVD

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

Phenotype #0000337664 Individual ID 00448476 Associated disease NEM2 Phenotype details neonatal hypotonia (HP:0001319); neonatal respiratory distress (HP:0002643); feeding difficulties in infancy (HP:0008872); scoliosis (HP:0002650); proximal muscle weakness (HP:0003701); EMG abnormality (HP:0003457);type 2 muscle fiber predominance (HP:0010602); abnormality of skeletal muscle fiber size (HP:0012084) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite NEM2 Age/Examination - 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 2024-03-11 22:02:06 +01:00 (CET) Date last edited 2025-08-11 10:01:54 +02:00 (CEST)

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