Global Variome shared LOVD

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Phenotype #0000331345 Individual ID 00441962 Associated disease MLC Phenotype details macrocephaly; mildly delayed early motor development; 16m-walk; mildly delayed language development; no detoriation; still ambulant; 2y-seizures; intellectual disability (IQ60); OFC >98perc.; dysarthria; no dysphagia; no spasticity arms; 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 5y (5 years) 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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