Phenotype #0000357834

Individual ID 00473039
Associated disease neuropathy
Diagnosis/Initial hereditary neuropathy
Diagnosis/Definite -
Phenotype details onset 29y with Hypoesthesia in hand & foot fingers; Distal & proximal muscle weakness & stiffness, distal>proximal, upper>lower; Mild distal legs muscle wasting; Hand tremor; Claw fingers; Mild pes cavus; Abnormal gait; Ataxia; Muscle spasm/ cramps; Poor fine motor coordination; EMG-NCV: compatible with chronic axonal sensorimotor polyneuropathy/ neuronopathy.
Inheritance Unknown
Age/Examination 35y (35 years)
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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