Global Variome shared LOVD

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Phenotype #0000332789 Individual ID 00443447 Associated disease ? Diagnosis/Initial lissencephaly, megalencephaly Diagnosis/Definite MRT34 Phenotype details see paper, ..., height 157.5 cm (-1.51SD), weight 60.4kg (+0.24SD), OFC 57.8 cm (+2SD), mild megalencephaly; mild intellectual disability; 12m-generalized nonconvulsive seizures, well controlled Inheritance Familial, autosomal recessive Age/Examination 17y (17 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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