Global Variome shared LOVD

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Phenotype #0000331338 Individual ID 00441955 Associated disease MLC Phenotype details ataxia; normal early motor development; 18m-walk; normal language development; 3y-detoriation; ataxia; still ambulant; no seizures; no intellectual disability; OFC >98perc.; no dysarthria; no dysphagia; no spasticity arms; no cerebellar ataxia arms; no spasticity legs; cerebellar ataxia legs Diagnosis/Initial classical megalencephalic leukoencephalopathy with subcortical cysts Inheritance Familial, autosomal recessive Diagnosis/Definite MLC2A Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset <3y 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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