Phenotype #0000357063

Individual ID 00472254
Associated disease -
Phenotype details 0001290: Generalised hypotonia, 0001270: Motor delay, 0003701: Proximal muscle weakness
Diagnosis/Initial Congenital myopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite Birk-Barel syndrome
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 2026-01-20 12:58:54 +01:00 (CET)
Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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