Phenotype #0000310384

Individual ID 00419096
Associated disease NEM2
Phenotype details Hypotonia (HP:0001252) since birth; classical myopathic facies (HP:0002058); proximal muscle weakness (HP:0003701) with mild respiratory involvement; EGM: myopathic abnormalities (HP:0003458); normal CK.
Diagnosis/Initial Unspecified congenital myopathy
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 InternationalCreative Commons License
Created by Lydia Sagath
Date created 2022-10-17 11:12:31 +02:00 (CEST)
Date last edited 2022-10-17 15:45:04 +02:00 (CEST)

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