ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Charcot-Marie-Tooth disease type 4B1

Severe early-onset axonal neuropathy due to NEFL deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MTMR2	(0.73)	NEFL

Citations in the biomedical literature:

Charcot-Marie-Tooth disease type 4B1		Severe early-onset axonal neuropathy due to NEFL deficiency
	Synonym(s): - CMT4B1		Synonym(s): - Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency

	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): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		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 - 1 MeSH reference: C535420		External references: No OMIM references No MeSH references

No signs/symptoms info available.