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Pelizaeus-Merzbacher disease, connatal form
1 associated gene
11 connected diseases
No signs/symptoms info
Disease Type of connection
Null syndrome
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, transitional form
Spastic paraplegia type 2
Huntington disease
Juvenile Huntington disease
CLN8 disease
Progressive epilepsy - intellectual deficit, Finnish type
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Synonym(s):
- Connatal PMD
- Pelizaeus-Merzbacher disease type II
- Severe PMD
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: x-linked recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
PLP1 P60201300401
No signs/symptoms info available.