Phenotype #0000233441

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00307984
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Anju Shukla
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2020-08-25 13:34:16 +02:00 (CEST)
Date last edited	N/A

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