Phenotype #0000358117

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00473322
Associated disease	neuropathy
Diagnosis/Initial	hereditary neuropathy
Diagnosis/Definite	-
Phenotype details	distal lower muscle weakness, fasciculation, foot drop, mediastinal lymph node dysarthria , chronic axonal sensorimotor polyneuropathy and cerebellar atrophy, cerebellar sign and slightly hypoalbuminemia
Inheritance	Familial, autosomal recessive
Age/Examination	46y (46 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.