ODCs

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

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
No signs/symptoms info

Severe neonatal-onset encephalopathy with microcephaly

Neurofibromatosis type 3


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MECP2	(0.92)	SMARCB1

Citations in the biomedical literature:

Severe neonatal-onset encephalopathy with microcephaly		Neurofibromatosis type 3
	Synonym(s): - Severe congenital encephalopathy due to MECP2 mutation		Synonym(s): - NF3 - Neurilemmomatosis - Schwannomatosis

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: C536641

No signs/symptoms info available.