Phenotype #0000124226

Individual ID 00151863
Associated disease CMT
Phenotype details 2y2m-walking, distal weakness marked in the lower extremities, mild distal muscle atrophy, no foot deformity, no distal sensory loss, no scoliosis, absent reflexes upper/lower extremities, myelin outfodings
Diagnosis/Initial Charcot-Marie-Tooth disease (CMT)
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMT-4H
Age/Examination 08y (8 years)
Age/Diagnosis 02y
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 2012-11-05 15:13:21 +01:00 (CET)
Date last edited 2018-01-27 17:01:36 +01:00 (CET)

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