Phenotype #0000335611

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00446376
Associated disease	?
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	NEDDSBA
Phenotype details	spastic tetraparesis (HP:0001285)
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	13y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Giada Moresco
Database submission license	No license selected
Created by	Giada Moresco
Date created	2024-01-15 19:23:38 +01:00 (CET)
Date last edited	2024-01-16 15:13:36 +01:00 (CET)

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