Developmental and epileptic encephalopathy 92

Preferred Label : Developmental and epileptic encephalopathy 92;

Symbol : DEE92;

CISMeF acronym : IECEE2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : IECEE2; Epileptic encephalopathy, infantile or early childhood, 2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-aminobutyric acid receptor, beta-2 gene (GABRB2, 600232.0001);

Prefixed ID : #617829;

Details

Origin ID

617829;

UMLS CUI

C4693362;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 92 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 92 [DO Concept]
Genes related to phenotype
- Gamma-aminobutyric acid receptor, beta-2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral visual impairment [HPO term]
- Difficulty walking [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- EEG abnormality [HPO term]
- Epileptic encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Lethargy [HPO term]
- Myoclonus [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Variable expressivity [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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