Phenotype #0000070599

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00092263
Associated disease	HLD3
Phenotype details	profound IDD, intractable epilepsy, developmental arrest, microcephaly, primary neurodegenerative disorder with secondary demyelination leukodystrophy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2016-12-16 19:09:22 +01:00 (CET)
Date last edited	N/A

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