Global Variome shared LOVD

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

Phenotype #0000016765 Individual ID 00018412 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y20m Diagnosis/Initial - Age/Examination 03y04m (3 years, 4 months) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset vomit, diarrhea Phenotype details - Protein - Biochem urine high levels of GA, 2-OH-GA, 3-OH-GA, 2-CETO G, Enzyme/Activity - Owner name Marisel De Lucca Database submission license No license selected Created by Marisel De Lucca Date created 2014-07-17 20:51:41 +02:00 (CEST) Date last edited 2014-07-18 12:43:42 +02:00 (CEST)

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