Phenotype #0000350789

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00359408
Associated disease	SEMD
Phenotype details	see paper; ...
Diagnosis/Initial	spondylo-epi-(meta)-physeal dysplasia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	OFD15
Age/Examination	02y (2 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2025-05-05 10:03:47 +02:00 (CEST)
Date last edited	2025-05-05 10:04:07 +02:00 (CEST)

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