Phenotype #0000349781

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00462281
Associated disease	?
Diagnosis/Initial	congenital sclerosing osteomalacia, cerebral calcification
Diagnosis/Definite	RNS
Phenotype details	see paper; ..., congenital sclerosing osteomalacia with cerebral calcification (MIM 259660);
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-02-07 13:36:02 +01:00 (CET)
Date last edited	N/A

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