Phenotype #0000348091

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00460363
Associated disease	NDD
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Phenotype details	see paper; ..., relative macrocephaly; verbal dyspraxia; Intellectual disability; seizures (tonic posturing, myoclonic jerks); no hypotonia; no hypertonia; no movement disorder; self-destructive behaviors; normal hearing; normal vision
Inheritance	Familial, autosomal recessive
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-24 19:20:35 +01:00 (CET)
Date last edited	N/A

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