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megalencephalic leukoencephalopathy with subcortical cysts 2A

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. The brain appears swollen on magnetic resonance imaging with white-matter abnormalities and subcortical cysts, in all stages of the disease.
Mondo Term and Equivalent IDs
MONDO:0013490:  megalencephalic leukoencephalopathy with subcortical cysts 2A
UMLS:C3151355: