Phenotype #0000348299

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00460575
Associated disease	NF
Phenotype details	see paper; ..., 6 or more café-au-lait macules; freckling; no neurofibroma; no OPG
Diagnosis/Initial	neurofibromatosis
Inheritance	Unknown
Diagnosis/Definite	NF1
Age/Examination	5y-8y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-26 15:42:09 +01:00 (CET)
Date last edited	N/A

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