Global Variome shared LOVD

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Phenotype #0000332799 Individual ID 00443457 Associated disease ? Diagnosis/Initial lissencephaly, megalencephaly Diagnosis/Definite - Phenotype details see paper, ..., height 160.7 cm (-0.79SD), weight 70.1 kg (+0.89SD), OFC 58.5 cm (+2.4SD), mild megalencephaly; mild-moderate intellectual disability; no seizures Inheritance Familial, autosomal recessive Age/Examination 33y (33 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-27 10:25:59 +01:00 (CET) Date last edited N/A

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