Pelizaeus-Merzbacher disease in female carriers
MONDO:0017224Mondo
Findings
No curated finding names Pelizaeus-Merzbacher disease in female carriers yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).
Definition from the Mondo Disease Ontology (MONDO:0017224), read 2026-09-29. CC BY 4.0.
Features
28 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 corpus callosum morphologyHPOHP:0001273
- Occasional (5% to 29% of cases)
- Abnormal speech patternHPOHP:0002167
- Occasional (5% to 29% of cases)
- Abnormality of the lower urinary tractHPOHP:0010936
- Occasional (5% to 29% of cases)
- Anomic aphasiaHPOHP:0030784
- Occasional (5% to 29% of cases)
- Babinski signHPOHP:0003487
- Occasional (5% to 29% of cases)
- CNS hypomyelinationHPOHP:0003429
- Occasional (5% to 29% of cases)
- Decreased vigilanceHPOHP:0032044
- Occasional (5% to 29% of cases)
- Deeply set eyeHPOHP:0000490
- Occasional (5% to 29% of cases)
- Developmental regressionHPOHP:0002376
- Occasional (5% to 29% of cases)
- Gait disturbanceHPOHP:0001288
- Occasional (5% to 29% of cases)
- Generalized-onset seizureHPOHP:0002197
- Occasional (5% to 29% of cases)
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
Show the remaining 16
- Hand apraxiaHPOHP:0032588
- Occasional (5% to 29% of cases)
- Horizontal nystagmusHPOHP:0000666
- Occasional (5% to 29% of cases)
- Hyperintensity of cerebral white matter on MRIHPOHP:0030890
- Occasional (5% to 29% of cases)
- HyperreflexiaHPOHP:0001347
- Occasional (5% to 29% of cases)
- HypertelorismHPOHP:0000316
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- Occasional (5% to 29% 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