Phenotype #0000232758

Individual ID 00306938
Associated disease CMT
Phenotype details see paper; ..., muscle weakness hand, muscle weakness lower limbs, ankle dorsiflexion, sensory loss, absent deep tendon reflexes, hearing loss, neck weakness, cramps, claw hand, not standing on heels
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Isolated (sporadic)
Diagnosis/Definite CMT2Z
Age/Examination 30y (30 years)
Age/Diagnosis -
Age/Onset 14y
Phenotype/Onset distal muscle weakness
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 2020-07-24 11:56:44 +02:00 (CEST)
Date last edited 2020-07-24 12:16:45 +02:00 (CEST)

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