Global Variome shared LOVD

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Phenotype #0000331349 Individual ID 00441966 Associated disease MLC Phenotype details macrocephaly; delayed early motor development; 18m-walk; no speech; no epilepsy; autism; no deterioration; intellectual disability (IQ50); OFC now 60->98perc.; cranial nerves normal; no hypotonia arms; no hypotonia legs Diagnosis/Initial improving megalencephalic leukoencephalopathy with subcortical cysts phenotype Inheritance Unknown Diagnosis/Definite MLC2B Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset 4m Phenotype/Onset - Protein - Owner name Rogier Min Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-10-31 16:41:00 +01:00 (CET) Date last edited N/A

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