Phenotype #0000145636

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00185505
Associated disease	L2HGA
Phenotype details	developmental delay; epilepsy; cereballar ataxia; no extrapyramidal signs; behavioral problems; loss of milestones
Diagnosis/Initial	L2HGA
Inheritance	Isolated (sporadic)
Diagnosis/Definite	L2HGA
Age/Examination	-
Age/Diagnosis	-
Age/Onset	23y
Phenotype/Onset	-
Protein	-
Owner name	Gajja Salomons
Database submission license	No license selected
Created by	Gajja Salomons
Date created	2016-01-05 14:59:57 +01:00 (CET)
Date last edited	N/A

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