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Null syndrome

MONDO:0017225

The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.

Also known as: PLP1 null syndrome, Pelizaeus-Merzbacher disease, null syndrome

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

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Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Neurodegenerative disease (171) Central nervous system disorder (107) Human disease (14) Inherited neurodegenerative disorder (10) Pelizaeus-Merzbacher spectrum disorder (8) Hereditary neurological disease (6) Leukodystrophy (5)
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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