Phenotype #0000232755

Individual ID 00306935
Associated disease CMT
Phenotype details see paper; ..., general hypotonia, proximal muscle weakness upper limbs, proximal muscle weakness lower limbs, wheelchair dependent, sensory loss, absent deep tendon reflexes, developmental delay, scoliosis, claw hand
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Isolated (sporadic)
Diagnosis/Definite CMT2Z
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset 00y09m
Phenotype/Onset general hypotonia
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 12:01:40 +02:00 (CEST)

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