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2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Distal hereditary motor neuropathy type 5
Hypomyelination with brain stem and spinal cord involvement and leg spasticity

BSCL2 DARS
GARS
REEP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GARS
(0.56)
DARS



Citations in the biomedical literature:


Distal hereditary motor neuropathy type 5
BSCL2 GARS REEP1
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
DARS



Distal hereditary motor neuropathy type 5
Hypomyelination with brain stem and spinal cord involvement and leg spasticity

Synonym(s):
- Distal spinal muscular atrophy type 5
- dHMN5

Synonym(s):
- HBSL

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

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

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

No signs/symptoms info available.