Phenotype #0000124229

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00151866
Associated disease	CMT
Phenotype details	1y-walking, distal weakness affecting hands and forearms, severe distal muscle atrophy, pes cavus and hammer toes, distal sensory loss with absent sensibility, sever scoliosis, absent reflexes upper/lower extremities, myelin outfodings
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMT-4H
Age/Examination	13y (13 years)
Age/Diagnosis	04y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-01-27 16:52:09 +01:00 (CET)
Date last edited	2018-01-27 16:58:52 +01:00 (CET)