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Leukoencephalopathy, megalencephalic

MONDO:0000137

2 clinical trials for this condition and its sub-types.

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Sub-types

Megalencephalic leukoencephalopathy with subcortical cysts (2) Megalencephalic leukoencephalopathy with subcortical cysts 1 (2) Megalencephalic leukoencephalopathy with subcortical cysts 2A (0) Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability (0) Megalencephalic leukoencephalopathy with subcortical cysts 3 (0) Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting (0)

Broader categories

Disease (717) Nervous system disorder (243) Hereditary disease (188) Brain disorder (131) Central nervous system disorder (115) Human disease (15) Hereditary neurological disease (6) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 1 Completed 1
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  • Could a single DNA test solve the mystery of rare brain diseases in kids?

    Knowledge-focused Completed

    This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

    Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused

    Last updated Jun 27, 2026 07:56 UTC

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