Phenotype #0000297462

Individual ID 00404903
Associated disease CMT
Phenotype details see paper; ..., distal weakness, no distal muscle atrophy, no involvement of proximal muscles, pes cavus, normal walking, running and jumping impossible, distal sensory loss, spine deformity, lower extremities deep tendon areflexia
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMTRIC
Age/Examination 42y (42 years)
Age/Diagnosis -
Age/Onset 20y
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 2022-03-10 16:49:38 +01:00 (CET)
Date last edited N/A

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