Developmental and epileptic encephalopathy 45

Preferred Label : Developmental and epileptic encephalopathy 45;

Symbol : DEE45;

CISMeF acronym : EIEE45;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 45; EIEE45;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-aminobutyric acid receptor, beta-1 gene (GABRB1, 137190.0001);

Prefixed ID : #617153;

Details

Origin ID

617153;

UMLS CUI

C4310691;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 45 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 45 [DO Concept]
Genes related to phenotype
- Gamma-aminobutyric acid receptor, beta-1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral visual impairment [HPO term]
- Developmental regression [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile onset [HPO term]
- 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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