ODCs

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5 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Benign adult familial myoclonic epilepsy

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

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


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

Citations in the biomedical literature:

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

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		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 (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

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