Phenotype #0000357921

Individual ID 00473126
Associated disease SMA
Phenotype details Difficulty walking, running & climbing steps; Feet drop; Positive Gowers sign; Hypotonia; Mildly increased CPK; EMG-NCV: suggestive of diffuse ant. horn cell disease.
Diagnosis/Initial spinal myscular atrophy
Inheritance Unknown
Diagnosis/Definite -
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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