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Hypomyelinating leukodystrophy 2

MONDO:0012125

Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.

Also known as: GJC2 leukodystrophy, HLD2, PMLD1, Pelizaeus-Merzbacher-like disease due to GJC2 mutation, hypomyelinating leukodystrophy type 2, leukodystrophy caused by mutation in GJC2, leukodystrophy, hypomyelinating, type 2, Pelizaeus-Merzbacher-like disease, 1

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (717) Nervous system disorder (243) Hereditary disease (188) Neurodegenerative disease (182) Central nervous system disorder (115) Human disease (15) Inherited neurodegenerative disorder (10) Hereditary neurological disease (6) Leukodystrophy (5) Disease of genetic or genomic mechanism (2)
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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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