Phenotype #0000358741

Individual ID 00473946
Associated disease neuropathy
Diagnosis/Initial hereditary neuropathy
Diagnosis/Definite -
Phenotype details onset 10y with severe pain & spasm in feet, extended to hands; Difficulty walking, running, climbing steps and rising from seated position; Distal muscle weakness, legs>arms; Lordosis; Tremor in hands; Thenar & hypothenar atrophy; Ankle deformity; Claw toes; Feet drop, bilateral; Flat feet; Abnormal gait; Prominent calves; EMG-NCV: motor polyneuropathy, mainly axonal features.
Inheritance Familial, autosomal recessive
Age/Examination 13y (13 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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