Phenotype #0000170555

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	00225440
Associated disease	SMD
Diagnosis/Initial	spondylometaphyseal dysplasia
Diagnosis/Definite	-
Phenotype details	see paper; …
Inheritance	Familial, autosomal recessive
Age/Examination	10y9m (10 years, 9 months)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-02-16 13:40:47 +01:00 (CET)
Date last edited	N/A

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