Developmental and epileptic encephalopathy 79

Preferred Label : Developmental and epileptic encephalopathy 79;

Symbol : DEE79;

CISMeF acronym : EIEE79;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 79; EIEE79;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-aminobutyric acid receptor, alpha-5 gene (GABRA5, 137142.0001);

Prefixed ID : #618559;

Details

Origin ID

618559;

UMLS CUI

C5231410;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 79 [DO Concept]
Genes related to phenotype
- Gamma-aminobutyric acid receptor, alpha-5 [OMIM gene]
HPO term(s)
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure with generalized onset [HPO term]
- CNS hypomyelination [HPO term]
- Cerebral cortical atrophy [HPO term]
- Frontotemporal cerebral atrophy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability, severe [HPO term]
- Migrating focal seizure [HPO term]
- Motor delay [HPO term]
- Myoclonic seizure [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Status epilepticus [HPO term]
- Tonic seizure [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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