Phenotype #0000333778

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00444525
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorders
Diagnosis/Definite	-
Phenotype details	Synophrys, Status epilepticus, Seizures, Recurrent singultus, Moderate global developmental delay, Infantile spasms, Hypoplasia of the corpus callosum, Fused teeth, Delayed speech and language development, Abnormal behavior
Inheritance	Familial, X-linked recessive
Age/Examination	02y-10y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-24 18:16:19 +01:00 (CET)
Date last edited	N/A

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