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
Created by	Johan den Dunnen
Date created	2023-10-31 16:41:00 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD