Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000146054 Individual ID 00185923 Associated disease CCDS1;CDSX Phenotype details MRS brain cr low-near absent; urinary creatine/creatinine ratio 2.9; creatine uptake cultured fibroblasts deficient Diagnosis/Initial SLC6A8 defect 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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