Epilepsy, early-onset, 2, with or without developmental delay

Preferred Label : Epilepsy, early-onset, 2, with or without developmental delay;

Symbol : EPEO2;

CISMeF acronym : EPEDD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SET domain-containing protein 1A gene (SETD1A, 611052.0002);

Prefixed ID : #618832;

Details

Origin ID

618832;

UMLS CUI

C5882670;

Genes related to phenotype
- Set domain-containing protein 1a [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Delayed CNS myelination [HPO term]
- Global developmental delay [HPO term]
- Hydrocele testis [HPO term]
- Patent foramen ovale [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients