Phenotype #0000174778

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00234360
Associated disease	SMA
Phenotype details	see paper; ..., SMA-IIIb
Diagnosis/Initial	spinal muscular atrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SMA-3
Age/Examination	29y (29 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-05-10 11:47:27 +02:00 (CEST)
Date last edited	N/A

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