Phenotype #0000291628

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00398501
Associated disease	CMT
Phenotype details	2m-ocular disease; glaucoma (HP:0000501); asymptomatic
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMT4B2
Age/Examination	03y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	asymptomatic
Protein	-
Owner name	Sarah El-Bestawi
Database submission license
Created by	Sarah El-Bestawi
Date created	2022-01-05 15:52:14 +01:00 (CET)
Date last edited	2022-01-06 15:38:33 +01:00 (CET)

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