Global Variome shared LOVD

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Phenotype #0000332792 Individual ID 00443450 Associated disease ? Diagnosis/Initial lissencephaly, megalencephaly Diagnosis/Definite MRT34 Phenotype details see paper, ..., height 163.5 cm (-0.7SD), weight 71.1 kg (+1.3SD), OFC 59.5 cm (+3.5SD), true megalencephaly; mild-moderate intellectual disability; no seizures; Chiari malformation, hydrocephalus with shunt Inheritance Familial, autosomal recessive Age/Examination 21y (21 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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