Pelizaeus-Merzbacher disease, connatal form
Findings
No curated finding names Pelizaeus-Merzbacher disease, connatal form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.
Definition from the Mondo Disease Ontology (MONDO:0017221), 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.
- Abnormal myelinationHPOHP:0012447
- Very frequent (80% to 99% of cases)
- Cerebral hypomyelinationHPOHP:0006808
- Very frequent (80% to 99% of cases)
- GliosisHPOHP:0002171
- Very frequent (80% to 99% of cases)
- Lower limb amyotrophyHPOHP:0007210
- Very frequent (80% to 99% of cases)
- Lower limb spasticityHPOHP:0002061
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Abnormal morphology of musculature of pharynxHPOHP:0430015
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Confluent hyperintensity of cerebral white matter on MRIHPOHP:0040330
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
Show the remaining 15
- Dystonic gaitHPOHP:0031954
- Frequent (30% to 79% of cases)
- Functional motor deficitHPOHP:0004302
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Inability to walkHPOHP:0002540
- Frequent (30% to 79% of cases)
- Laryngeal stridorHPOHP:0006511
- Frequent (30% to 79% of cases)
- PachygyriaHPOHP:0001302
- 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
3 names
Resolves to: Pelizaeus-Merzbacher disease, connatal form
- Also called
- connatal PMDPelizaeus-Merzbacher disease type IIsevere PMD