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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Autosomal dominant spastic paraplegia type 13

HSPD1 HSPD1


COMMON
GENES
HSPD1



Citations in the biomedical literature:


Pelizaeus-Merzbacher-like due to HSPD1 mutation
HSPD1
Autosomal dominant spastic paraplegia type 13



Pelizaeus-Merzbacher-like due to HSPD1 mutation
Autosomal dominant spastic paraplegia type 13

Synonym(s):
- Mitochondrial HSP60 chaperonopathy

Synonym(s):
- SPG13

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537485

No signs/symptoms info available.