Phenotype #0000331337

Individual ID 00441954
Associated disease MLC
Phenotype details macrocephaly; mildly delayed early motor development; 24m-walk; normal language development; 5y6m-detoriation; ataxia, spasticity,; dystonia, late mild; cognitive decline; 14y-wheelchair-bound; 32y-seizures; intellectual disability (IQ75); OFC >98perc.; dysarthria; dysphagia; spasticity arms; cerebellar ataxia arms; spasticity legs; cerebellar ataxia legs
Diagnosis/Initial classical megalencephalic leukoencephalopathy with subcortical cysts
Inheritance Familial, autosomal recessive
Diagnosis/Definite MLC2A
Age/Examination 37y (37 years)
Age/Diagnosis -
Age/Onset <1y
Phenotype/Onset -
Protein -
Owner name Rogier Min
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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