Global Variome shared LOVD

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Phenotype #0000359457 Individual ID 00474665 Associated disease SKS Diagnosis/Initial - Diagnosis/Definite - Phenotype details Round face, Atypical behavior, Axial hypotonia, Motor delay, Hydrocephalus, Hepatosplenomegaly, Large for gestational age, Macrocephaly at birth, Abnormality of the face, Abnormal circulating enzyme concentration or activity Inheritance Unknown Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2026-03-19 16:33:56 +01:00 (CET) Date last edited 2026-03-20 09:22:37 +01:00 (CET)

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