Phenotype #0000358619

Individual ID 00473824
Associated disease neuropathy
Diagnosis/Initial hereditary neuropathy
Diagnosis/Definite -
Phenotype details Vertical inheritance, multiple affected individuals, onset 4y earlier, upper and lower muscle weakness, cold induced muscle cramps, neuropathy, foot drop , distal sensory impairment, hyporeflexia, motor sensory axonal polyneuropathy reported in NCV, negative MLPA result for PMP22 dup/del.
Inheritance Familial, autosomal dominant
Age/Examination 53y (53 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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