Global Variome shared LOVD

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Phenotype #0000332793 Individual ID 00443451 Associated disease ? Diagnosis/Initial lissencephaly, megalencephaly Diagnosis/Definite MRT34 Phenotype details see paper, ..., height 177,8 cm (-0.19SD), weight 75 kg (-0.19SD), OFC 57.5 cm (+0.4SD), no megalencephaly; borderline-mild intellectual disability; no seizures Inheritance Familial, autosomal recessive Age/Examination 19y (19 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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