Phenotype #0000254611

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00359315
Associated disease	HMN
Phenotype details	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement; CK level 530 (U/L)
Diagnosis/Initial	distal hereditary motor neuropathy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	60y (60 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-03-19 08:49:14 +01:00 (CET)
Date last edited	N/A

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