Phenotype #0000243133

Individual ID 00324624
Associated disease CMT
Phenotype details first signs lower limbs before upper limbs, cramps in lower limbs; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 43.5m/s
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal dominant
Diagnosis/Definite CMT2N
Age/Examination 34y (34 years)
Age/Diagnosis -
Age/Onset 22y
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 2020-12-20 15:38:25 +01:00 (CET)
Date last edited N/A

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