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, 2 tagged with Null syndrome itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Pelizaeus-Merzbacher spectrum disorder (8)

Including sub-types (2) Tagged with Null syndrome (2)

Trials to join now! 1 Completed 1

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

Null syndrome

Where it sits in the disease tree

Could a single DNA test solve the mystery of rare brain diseases in kids?