Phenotype #0000352835

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00467623
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	IGHD2
Phenotype details	see paper; ..., endocrine system disorders; speech disability, lack of eye contact, autistic behaviors, mild learning disability, perinatal asphyxia, short stature; MRI empty sella; no cardiac anomalies
Inheritance	Familial, autosomal dominant
Age/Examination	4y3m (4 years, 3 months)
Age/Diagnosis	-
Age/Onset	12m
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-10-24 22:46:25 +02:00 (CEST)
Date last edited	N/A

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