ODCs

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5 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Benign adult familial myoclonic epilepsy

MASA syndrome

ADRA2B	(UniProt - OMIM)		L1CAM	(UniProt - OMIM)
CNTN2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CNTN2	(0.75)	L1CAM

Citations in the biomedical literature:

Benign adult familial myoclonic epilepsy		MASA syndrome
	Synonym(s): - ADCME - Autosomal dominant cortical myoclonus and epilepsy - BAFME - FAME - FCMTE - Familial adult myoclonic epilepsy - Familial cortical myoclonic tremor and epilepsy		Synonym(s): - Intellectual defici-aphasia-shuffling gait-adducted thumbs syndrome

	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): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: elderly Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: x-linked recessive

	External references: 5 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536029


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Benign adult familial myoclonic epilepsy		MASA syndrome
	Very frequent - Autosomal dominant inheritance - EEG anomalies - Myoclonus / fasciculations - Tremor Frequent - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Facial pain / cephalalgia / migraine - Transient amaurosis / acute visual trouble		Very frequent - Abnormal gait - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypereflexia - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - X-linked recessive inheritance Frequent - Camptodactyly of fingers - Clinodactyly of fifth finger Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly