Pelizaeus-Merzbacher disease, classic form
MONDO:0017222Mondo
Findings
No curated finding names Pelizaeus-Merzbacher disease, classic form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.
Definition from the Mondo Disease Ontology (MONDO:0017222), read 2026-09-29. CC BY 4.0.
Features
27 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.
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Cerebral hypomyelinationHPOHP:0006808
- Very frequent (80% to 99% of cases)
- Confluent hyperintensity of cerebral white matter on MRIHPOHP:0040330
- Very frequent (80% to 99% of cases)
- Delayed ability to walkHPOHP:0031936
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- EEG with abnormally slow frequenciesHPOHP:0011203
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Abnormality of somatosensory evoked potentialsHPOHP:0007377
- Frequent (30% to 79% of cases)
Show the remaining 15
- AthetosisHPOHP:0002305
- Frequent (30% to 79% of cases)
- Axial hypotoniaHPOHP:0008936
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- Delayed ability to sitHPOHP:0025336
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- 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, classic form
- Also called
- classic PMD