Epilepsy, early-onset, 5, with or without developmental delay

Preferred Label : Epilepsy, early-onset, 5, with or without developmental delay;

Symbol : EPEO5;

CISMeF acronym : FAME5; FCMTE5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FCMTE5; Cortical myoclonic tremor with epilepsy, familial, 5; Epilepsy, familial adult myoclonic, 5; FAME5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the contactin 2 gene (CNTN2, 190197.0001);

Prefixed ID : #615400;

Details

Origin ID

615400;

UMLS CUI

C3809374;

Automatic exact mappings (from CISMeF team)
- familial adult myoclonic epilepsy 5 [DO Concept]
DO Cross reference
- familial adult myoclonic epilepsy 5 [DO Concept]
Genes related to phenotype
- Contactin 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Focal sensory seizure [HPO term]
- Focal sensory seizure with visual features [HPO term]
- Seizure [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Benign adult familial myoclonic epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Benign adult familial myoclonic epilepsy [ORDO Disease]

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