ODCs

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

PROTEIN INTERACTIONS: 1

5 OMIM references -
2 associated genes
8 signs/symptoms

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Benign adult familial myoclonic epilepsy

CREBBP	(UniProt - OMIM)		ADRA2B	(UniProt - OMIM)
			CNTN2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CREBBP	(0.78)	CNTN2

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		Benign adult familial myoclonic epilepsy
	Synonym(s): (no synonyms)		Synonym(s): - ADCME - Autosomal dominant cortical myoclonus and epilepsy - BAFME - FAME - FCMTE - Familial adult myoclonic epilepsy - Familial cortical myoclonic tremor and epilepsy

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal 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: unknown Average age onset: variable Average age of death: elderly Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 5 OMIM references - No MeSH references

Benign adult familial myoclonic epilepsy
	Very frequent - Autosomal dominant inheritance - EEG anomalies - Myoclonus / fasciculations - Tremor Frequent - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Facial pain / cephalalgia / migraine - Intellectual deficit / mental / psychomotor retardation / learning disability - Transient amaurosis / acute visual trouble
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
(no data available)