Phenotype #0000228489

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00301221
Associated disease	neuropathy
Diagnosis/Initial	complex CMT2
Diagnosis/Definite	-
Phenotype details	mild severity; axonal motor NCS; sensory NCS lower limbs normal; Complex ataxo-spastic syndrome entailing mental retardation (since age 3), coarse facial features, bulky stature
Inheritance	Familial, autosomal recessive
Age/Examination	34y (34 years)
Age/Onset	29y
Phenotype/Onset	walking difficulties
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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