Global Variome shared LOVD

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Phenotype #0000332791 Individual ID 00443449 Associated disease ? Diagnosis/Initial lissencephaly, megalencephaly Diagnosis/Definite MRT34 Phenotype details see paper, ..., height 178 cm (-0.4SD), weight 79.7 kg (+0.85SD), OFC 60 cm (+2.7SD), mild megalencephaly; mild intellectual disability; no seizures Inheritance Familial, autosomal recessive Age/Examination 23y (23 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 09:52:50 +01:00 (CET) Date last edited N/A

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