Global Variome shared LOVD

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Phenotype #0000331359 Individual ID 00441976 Associated disease MLC Phenotype details macrocephaly; normal early motor development; 16m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; dysarthria NL; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs Diagnosis/Initial improving megalencephalic leukoencephalopathy with subcortical cysts phenotype Inheritance Unknown Diagnosis/Definite MLC2B Age/Examination 5y (5 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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