Developmental and epileptic encephalopathy 78

Preferred Label : Developmental and epileptic encephalopathy 78;

Symbol : DEE78;

CISMeF acronym : EIEE78;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 78; EIEE78;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-aminobutyric acid receptor, alpha-2 gene (GABRA2, 137140.0004);

Prefixed ID : #618557;

Details

Origin ID

618557;

UMLS CUI

C5231409;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 78 [DO Concept]
Genes related to phenotype
- Gamma-aminobutyric acid receptor, alpha-2 [OMIM gene]
HPO term(s)
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- CNS hypomyelination [HPO term]
- Cerebral palsy [HPO term]
- Cerebral visual impairment [HPO term]
- Chorea [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypothermia [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Microcephaly [HPO term]
- Neonatal hypotonia [HPO term]
- Poor eye contact [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Spasticity [HPO term]
- Status epilepticus [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
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