Phenotype #0000325671

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00435484
Associated disease	-
Phenotype details	see paper; ..., microcephaly; growth retardation; birdlike face, chromosomal alterations, bone marrow aplasia; recurrent respiratory tract infections; no autoimmunity
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	09y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-08-03 09:48:22 +02:00 (CEST)
Date last edited	N/A

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