Phenotype #0000152883

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00204621
Associated disease	BVVLS1
Phenotype details	Hypotonia, cerebellar signs, brisk reflexes in lower limbs, persistent ankle clonus, stridor, EMG: bulbar palsy, anterior horn involvement; phrenic nerve denervation, auditory neuropathy. Initial presentation: Sub-acute encephalopathy
Diagnosis/Initial	-
Inheritance	-
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Jacopo Celli
Date created	2010-07-22 11:21:10 +02:00 (CEST)
Date last edited	2021-10-24 16:12:17 +02:00 (CEST)

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