Phenotype #0000145986

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00185855
Associated disease	CCDS1;CDSX
Phenotype details	MRS brain reduced; urinary creatine/creatinine ratio increased
Diagnosis/Initial	SLC6A8 heterozygote
Inheritance	Unknown
Diagnosis/Definite	CCDS-1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Gajja Salomons
Database submission license	No license selected
Created by	Gajja Salomons
Date created	2016-01-26 15:07:50 +01:00 (CET)
Date last edited	N/A

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