Phenotype #0000228494

Individual ID 00301226
Associated disease neuropathy
Diagnosis/Initial CMT intermediate
Diagnosis/Definite -
Phenotype details moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal
Inheritance Familial, autosomal recessive
Age/Examination 23y (23 years)
Age/Onset 12y
Phenotype/Onset walking and running difficulties
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 2020-05-10 11:49:06 +02:00 (CEST)
Date last edited N/A

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