Pelizaeus-Merzbacher disease, transitional form
Findings
No curated finding names Pelizaeus-Merzbacher disease, transitional form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.
Definition from the Mondo Disease Ontology (MONDO:0017223), read 2026-09-29. CC BY 4.0.
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CNS hypomyelinationHPOHP:0003429
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Frequent (30% to 79% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Frequent (30% to 79% of cases)
- Spastic tetraparesisHPOHP:0001285
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PLP1HGNC:9086
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
1 name
Resolves to: Pelizaeus-Merzbacher disease, transitional form
- Also called
- transitional PMD