Phenotype #0000135696

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00168071
Associated disease	SMA2
Phenotype details	5.5y-respiratory support and gastrostomy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y11m
Phenotype/Onset	proximal spinal muscular atrophy (HP:0006959)
Protein	-
Owner name	Kyriaki Kekou
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2018-07-24 09:44:17 +02:00 (CEST)
Date last edited	2018-07-24 09:44:33 +02:00 (CEST)

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