Global Variome shared LOVD

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Phenotype #0000331494 Individual ID 00442143 Associated disease MLC Phenotype details see paper; ..., birth OFC normal; OFC 57cm (>97%); 3y-seizure after head trauma; loss of consciousness after head trauma; ataxia; no spasticity; intention tremor; dysmetria; normal speech; no deterioration yet; 4y-onset motor deterioration; developmental delay; 3m-onset macrocephaly; MRI brain swollen white matter, subcortical cyst Diagnosis/Initial megalencephalic leukoencephalopathy and subcortical cysts Inheritance Familial, autosomal recessive Diagnosis/Definite MLC1 Age/Examination 10y6m (10 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-19 10:02:41 +01:00 (CET) Date last edited N/A

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