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TUBB4A-related neurologic disorder

MONDO:0800470

Any neurologic condition in which the cause of the disease is a mutation in the TUBB4A gene.

4 clinical trials for this condition and its sub-types, 4 tagged with TUBB4A-related neurologic disorder itself.

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Where it sits in the disease tree

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Part of

↑ Inherited neurodegenerative disorder (808)

Sub-types of TUBB4A-related neurologic disorder

Hypomyelinating leukodystrophy 6 2 trials

Including sub-types (4) Tagged with TUBB4A-related neurologic disorder (4)

Trials to join now! 1 Not yet finished but already full! 2 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