ODCs

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

PROTEIN INTERACTIONS: 1

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

Charcot-Marie-Tooth disease type 2B2

Blepharophimosis-intellectual deficit syndrome, MKB type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MED25	(0.73)	MED12

Citations in the biomedical literature:

Charcot-Marie-Tooth disease type 2B2		Blepharophimosis-intellectual deficit syndrome, MKB type
	Synonym(s): - AR-CMT2B2 - Autosomal recessive axonal CMT4C3 - Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2		Synonym(s): - BMRS, MKB type - BMRS, Maat-Kievit-Brunner type - Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood 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: x-linked recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537991		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.