Global Variome shared LOVD

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Phenotype #0000332795 Individual ID 00443453 Associated disease ? Diagnosis/Initial lissencephaly, megalencephaly Diagnosis/Definite MRT34 Phenotype details see paper, ..., height 170.2 cm (-1.53SD), weight 81.1 (+0.98SD), OFC 58.9 cm (+2.1SD), mild megalencephaly; mild intellectual disability; no seizures Inheritance Familial, autosomal recessive Age/Examination 47y (47 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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