ODCs

Click node...

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

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

Kleefstra syndrome due to a point mutation

Neurofibromatosis type 3


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EHMT1	(0.63)	LZTR1

Citations in the biomedical literature:

Kleefstra syndrome due to a point mutation		Neurofibromatosis type 3
	Synonym(s): (no synonyms)		Synonym(s): - NF3 - Neurilemmomatosis - Schwannomatosis

	Classification (Orphanet): - Rare developmental defect during embryogenesis - 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): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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

No signs/symptoms info available.