Phenotype #0000331090

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00303558
Associated disease	epilepsy
Phenotype details	see paper; ..., no microcephaly; global developmental delay; 12m-sit; 2y3m-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; large ears, long slender fingers; tone reduced; reflexes increased
Diagnosis/Initial	epilepsy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	02y10m (2 years, 10 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-09 11:38:24 +01:00 (CET)
Date last edited	N/A

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