Global Variome shared LOVD

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Phenotype #0000356897 Individual ID 00472088 Associated disease ISOD Phenotype details Hypertonia, Feeding difficulties in infancy, Enlarged cisterna magna, Elevated circulating S-sulfocysteine concentration, Increased circulating lactate concentration, Intracranial cystic lesion Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y01m (1 month) 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 2026-01-07 14:09:08 +01:00 (CET) Date last edited 2026-01-10 09:28:56 +01:00 (CET)

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