ODCs

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5 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
16 signs/symptoms

Benign adult familial myoclonic epilepsy

Hydrocephalus with stenosis of aqueduct of Sylvius

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		Hydrocephalus with stenosis of aqueduct of Sylvius
	Synonym(s): - ADCME - Autosomal dominant cortical myoclonus and epilepsy - BAFME - FAME - FCMTE - Familial adult myoclonic epilepsy - Familial cortical myoclonic tremor and epilepsy		Synonym(s): - Bickers-Adams syndrome - HSAS - X-linked HSAS - X-linked acqueductal stenosis - X-linked hydrocephalus with stenosis of aqueduct of Sylvius

	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): - 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: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

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


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus

Benign adult familial myoclonic epilepsy		Hydrocephalus with stenosis of aqueduct of Sylvius
	Very frequent - Autosomal dominant inheritance - EEG anomalies - Myoclonus / fasciculations - Tremor Occasional - Facial pain / cephalalgia / migraine - Transient amaurosis / acute visual trouble		Very frequent - Cranial hypertension - Hemiplegia / diplegia / hemiparesia / limb palsy - Hydrocephaly - Hypertonia / spasticity / rigidity / stiffness - Stenosis of aqueduc of Sylvius - X-linked recessive inheritance Frequent - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large Occasional - Autosomal recessive inheritance - Coarse face - Corpus callosum / septum pellucidum total / partial agenesis - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Nystagmus - Restricted joint mobility / joint stiffness / ankylosis - Strabismus / squint