Phenotype #0000358697

Individual ID 00473902
Associated disease SMA
Phenotype details onset:2y, Borderline IQ; Difficulty climbing steps; Proximal muscle weakness, lower>upper; Tremor; Dysmetria; EMG-NCV: neurogenic process.
Diagnosis/Initial spinal myscular atrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 6y (6 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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