Phenotype #0000331169

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00441750
Associated disease	?
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., autism, anxiety, aggression; no microcephaly; dysmorphism, bifid uvula; hyperextensibility, fatigue, joint pain; tremor, muscle weakness, nephrotic syndrome
Inheritance	Unknown
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-10 18:34:41 +01:00 (CET)
Date last edited	N/A

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