Phenotype #0000355019

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Paul van der Zwaag

Individual ID	00469874
Associated disease	skeletal dysplasia
Diagnosis/Initial	failure eruption primary teeth
Diagnosis/Definite	EKNS
Phenotype details	see paper; ..., failure eruption primary teeth; 1y-prominent forehead; 4y-febrile seizures; normal developmental milestones, no intellectual disability
Inheritance	Familial, autosomal recessive
Age/Examination	07y (7 years)
Age/Diagnosis	-
Age/Onset	07y
Phenotype/Onset	failure eruption primary teeth
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-20 12:33:13 +01:00 (CET)
Date last edited	2025-11-23 14:36:38 +01:00 (CET)

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