Developmental and epileptic encephalopathy 43

Preferred Label : Developmental and epileptic encephalopathy 43;

Symbol : DEE43;

CISMeF acronym : EIEE43;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE43; Epileptic encephalopathy, early infantile, 43;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-aminobutyric acid receptor, beta-3 gene (GABRB3, 137192.0005);

Prefixed ID : #617113;

Details

Origin ID

617113;

UMLS CUI

C4310712;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 43 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 43 [DO Concept]
Genes related to phenotype
- Gamma-aminobutyric acid receptor, beta-3 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dyskinesia [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Lennox-Gastaut syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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