Phenotype #0000346299

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457851
Associated disease	ALXDRD
Phenotype details	see paper; ..., 40w-birth, weight 2550g (−1.6SD), length 46cm (−2.0SD), OFC 31cm (−1.8SD); developmental milestones slightly delayed, 5m-head control, 12m-stand, 20m-walk, 24m-first speech; 5y-first seizure
Diagnosis/Initial	infantile-juvenile form Alexander disease
Inheritance	Unknown
Diagnosis/Definite	ALXDRD
Age/Examination	06y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-20 14:26:54 +01:00 (CET)
Date last edited	N/A

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