Phenotype #0000304365

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00412360
Associated disease	NDD
Diagnosis/Initial	intellectual disability, epilepsy
Diagnosis/Definite	-
Phenotype details	severe intellectual disability, autism, atypical absence seizures, atonic seizures, myoclonic absences, generalizied tonic clonic seizures , no speech, ataxic gait, almond shaped eys, full lips, narrow palate
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-06-27 21:35:38 +02:00 (CEST)
Date last edited	N/A

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