Phenotype #0000358692

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473897
Associated disease	neuropathy
Diagnosis/Initial	hereditary neuropathy
Diagnosis/Definite	-
Phenotype details	onset:1y, Abnormality of gait; Hand tremor; Mild muscle weakness, distal, lower limbs due to neuropathy; Difficulty rising from seated position & climbing steps; EMG-NCV: anterior horn cell disease; EEG: theta rhythm dominant.
Inheritance	Familial, autosomal recessive
Age/Examination	6y (6 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-06 17:24:40 +01:00 (CET)
Date last edited	N/A

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