Phenotype #0000358069

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473274
Associated disease	neuropathy
Diagnosis/Initial	hereditary neuropathy
Diagnosis/Definite	-
Phenotype details	Sporadic case, decreased muscle mass of upper and lower extremities, ulnar deviation, scapula winging, pterygium, webbed elbow and small joint contracture, overlapping fingers, club foot, chronic asymmetric axonal neuropathy, lumbar rigid spine
Inheritance	Unknown
Age/Examination	5y (5 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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