Global Variome shared LOVD

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Phenotype #0000331341 Individual ID 00441958 Associated disease MLC Phenotype details macrocephaly; normal early motor development; 15m-walk; normal language development; 4y-detoriation; spasticity; still ambulant; 4y-seizures; intellectual disability (IQ70); OFC >98perc.; no dysarthria; no dysphagia; no spasticity arms; no cerebellar ataxia arms; spasticity legs; no cerebellar ataxia legs Diagnosis/Initial classical megalencephalic leukoencephalopathy with subcortical cysts Inheritance Familial, autosomal recessive Diagnosis/Definite MLC2A Age/Examination 7y6m (7 years, 6 months) Age/Diagnosis - Age/Onset 1d 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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