Phenotype #0000357945

Individual ID 00473150
Associated disease motor neuron disease
Diagnosis/Initial motor neuron disease
Diagnosis/Definite -
Phenotype details onset 14y, Mild neuropathy of hands & feet; Distal lower & upper muscle weakness due to neuropathy; Pes cavus; EMG-NCV: in favor of active motor neuron disorders; Elevated CPK; Brain MRI: mild senile global cortical atrophy and moderate to severe generalized cerebellar atrophy.
Inheritance Familial, autosomal recessive
Age/Examination 21y (21 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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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