Phenotype #0000228479

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00301211
Associated disease	neuropathy
Diagnosis/Initial	CMT intermediate
Diagnosis/Definite	-
Phenotype details	moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced; upper limb tremor, mild hearing loss
Inheritance	Familial, autosomal recessive
Age/Examination	17y (17 years)
Age/Onset	13y
Phenotype/Onset	difficulties running and jumping, ankle sprains
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-10 11:49:06 +02:00 (CEST)
Date last edited	N/A

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