Global Variome shared LOVD

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Phenotype #0000330576 Individual ID 00441137 Associated disease NEM2 Phenotype details neonatal hypotonia (HP:0001319); multiple prenatal fractures (HP:0005855); neonatal respiratory distress (HP:0002643); respiratory insufficiency due to muscle weakness (HP:0002747); feeding difficulties in infancy (HP:0008872); gastroesophageal reflux (HP:0002020); choking episodes (HP:0030842); delayed motor milestones (HP:0001270); type 1 muscle fiber predominance (HP:0003803); abnormality of skeletal muscle fiber size (HP:0012084) Diagnosis/Initial NEM2 Inheritance Unknown 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 2023-11-07 13:33:51 +01:00 (CET) Date last edited 2023-11-16 14:43:05 +01:00 (CET)

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