Phenotype #0000351775

Individual ID 00466411
Associated disease DFNB12
Phenotype details Myopathy * Axial muscle weakness * Muscle weakness * Proximal muscle weakness * Joint hypermobility * Congenital sensorineural hearing impairment
Diagnosis/Initial Congenital myopathy
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Camille Verebi
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Camille Verebi
Date created 2025-08-27 14:18:14 +02:00 (CEST)
Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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