Global Variome shared LOVD

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Phenotype #0000331490 Individual ID 00442139 Associated disease MLC Phenotype details see paper; ..., birth OFC 31cm; OFC 56cm (>97%); no seizure after head trauma; loss of consciousness after head trauma; no ataxia; no spasticity; no intention tremor; no dysmetria; normal speech; no deterioration yet; not motor deterioration yet; developmental delay; <5m-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 3y9m (3 years, 9 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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