null syndrome
ORPHA: 280234
Overview
The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with null syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormality of peripheral nerve conductionCNS hypomyelinationDemyelinating peripheral neuropathyPeripheral demyelinationDecreased nerve conduction velocityAtaxiaGait disturbanceProgressive spastic paraplegiaOptic atrophyAbnormal cerebellum morphologyModerate intellectual disabilityProgressive spastic quadriplegiaInability to walkNeurodevelopmental delay
Classification & Codes
Orphanet Code
ORPHA:280234null syndrome
| Orphanet | ORPHA:280234 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO