Pelizaeus-Merzbacher spectrum disorder
Findings
No curated finding names Pelizaeus-Merzbacher spectrum disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.
Definition from the Mondo Disease Ontology (MONDO:0010714), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Slowly progressive
HPO, annotations 2026-09-02
Features
64 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.
- ApathyHPOHP:0000741
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Broad-based gaitHPOHP:0002136
- 1 of 1 reported patient
- Cerebellar vermis atrophyHPOHP:0006855
- 1 of 1 reported patient
- CNS hypomyelinationHPOHP:0003429
- 1 of 1 reported patient
- DepressionHPOHP:0000716
- 1 of 1 reported patient
- Generalized dystoniaHPO
Show the remaining 52
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Intention tremorHPOHP:0002080
- 1 of 1 reported patient
- Mental deteriorationHPOHP:0001268
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Optic atrophyHPOHP:0000648
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Psychomotor deteriorationHPOHP:0002361
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
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · ClinGen · X-linked · 2018
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
7 names
Resolves to: Pelizaeus-Merzbacher spectrum disorder
- Also called
- diffuse familial brain sclerosisHLD1Pelizaeus-Merzbacher brain sclerosisPelizaeus-Merzbacher diseasePelizaeus-Merzbacher disease, X-linked recessivePMDSudanophilic leukodystrophy, Paelizeus-Merzbacher type