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Pelizaeus-Merzbacher-like due to GJC2 mutation
1 OMIM reference -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive spastic paraplegia type 44
Milroy disease
Congenital analbuminemia
Synonym(s):
- PMLD1
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GJC2 Q5T442608803
No signs/symptoms info available.