Phenotype #0000331121

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00441696
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., microcephaly; global developmental delay; 2y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; no dysmorphic features;
Inheritance	Familial, autosomal recessive
Age/Examination	7y10m (7 years, 10 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-09 12:18:41 +01:00 (CET)
Date last edited	N/A

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