Phenotype #0000357765

Individual ID 00472970
Associated disease MDC
Phenotype details Hypotonia since birth; Developmental Delay; Mental retardation, moderate to severe; Seizures; Generalized muscle weakness; Muscle atrophy; Decreased muscle force; No walking; EMG: myopathy; Muscle biopsy: prominent selective type 2 fibers atrophy; IHC: labeling with all examined antibodies
Diagnosis/Initial congenital muscular dystrophy
Diagnosis/Definite -
Inheritance Unknown
Age/Examination 8y (8 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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