Global Variome shared LOVD

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Phenotype #0000346201 Individual ID 00457752 Associated disease GADEVS Diagnosis/Initial - Diagnosis/Definite - Phenotype details Global developmental delay, Proptosis, Downslanted palpebral fissures, Macrocephaly, Neonatal respiratory distress, Single transverse palmar crease, Cafe-au-lait spot, Hemangioma, Dilation of Virchow-Robin spaces, Ventriculomegaly, Hydrocephalus, Prominent forehead, Thin upper lip vermilion Inheritance Isolated (sporadic) Age/Examination 01y (1 year) 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 2024-11-18 16:42:01 +01:00 (CET) Date last edited 2024-11-19 10:14:53 +01:00 (CET)

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