Phenotype #0000358032

Individual ID 00473237
Associated disease CMT
Phenotype details parents two affected siblings, age 22y , low birth weight , intellectual disability, speech delay, distal upper and lower muscle atrophy, frequent falling , wheelchair boundaries, hereditary myopathy in EMG, symmetric severe axonal motor polyneuropathy in NCV, normal EEG.
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 21y (21 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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