Phenotype #0000280319

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00386513
Associated disease	BVVLS
Phenotype details	see paper; ..., progressive sensorineural deafness, childhood amyotrophic lateral sclerosis
Diagnosis/Initial	Brown-Vialetto-Van Laere syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	BVVLS2
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-10-24 13:17:28 +02:00 (CEST)
Date last edited	N/A

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