Global Variome shared LOVD

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

Phenotype #0000167538 Individual ID 00218975 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 15y Phenotype/Onset Large head circumference in infancy Phenotype details Disease course: no neurological symptoms, no sense of disease, periodic headaches (HP:0002315), degree in mathematics Protein - Biochem High excretor Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-02-04 15:55:46 +01:00 (CET) Date last edited N/A

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