Global Variome shared LOVD

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Phenotype #0000308500 Individual ID 00416989 Associated disease GALAC2 Phenotype details Megalencephaly, Leukoencephalopathy, Cataract, Hypergalactosemia, Elevated circulating alkaline phosphatase concentration Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y06m (6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2022-09-12 14:53:00 +02:00 (CEST) Date last edited 2022-09-12 16:20:08 +02:00 (CEST)

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