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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Isolated focal cortical dysplasia type IIb
Severe early-onset axonal neuropathy due to NEFL deficiency

TSC1 NEFL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TSC1
(0.86)
NEFL



Citations in the biomedical literature:


Isolated focal cortical dysplasia type IIb
TSC1
Severe early-onset axonal neuropathy due to NEFL deficiency
NEFL



Isolated focal cortical dysplasia type IIb
Severe early-onset axonal neuropathy due to NEFL deficiency

Synonym(s):
- FCD type IIb

Synonym(s):
- Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
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:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.