Phenotype #0000146282

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00186151
Associated disease	CCDS1;CDSX
Phenotype details	developmental delay; no epilepsy; no macrocephaly; MRS brain Lack of a creatine peak; urinary creatine/creatinine ratio 2.9mmol/mol; creatine uptake cultured fibroblasts <10% of normal
Diagnosis/Initial	SLC6A8 defect
Inheritance	Familial
Diagnosis/Definite	CCDS-1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	10m
Phenotype/Onset	-
Protein	-
Owner name	Vered Raz
Database submission license	No license selected
Created by	Gajja Salomons
Date created	2016-05-02 15:06:40 +02:00 (CEST)
Date last edited	N/A

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