Global Variome shared LOVD

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Phenotype #0000331354 Individual ID 00441971 Associated disease MLC Phenotype details macrocephaly; delayed early motor development; 13m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; clumsy with arms; mild hypotonia legs; no motor signs legs Diagnosis/Initial improving megalencephalic leukoencephalopathy with subcortical cysts phenotype Inheritance Unknown Diagnosis/Definite MLC2B Age/Examination 9y6m (9 years, 6 months) Age/Diagnosis - Age/Onset 11m 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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