Developmental and epileptic encephalopathy 27

Preferred Label : Developmental and epileptic encephalopathy 27;

Symbol : DEE27;

CISMeF acronym : EIEE27;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 27; EIEE27;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ionotropic glutamate receptor, N-methyl-D-aspartate, subunit 2B gene (GRIN2B, 138252.0010);

Prefixed ID : #616139;

Details

Origin ID

616139;

UMLS CUI

C4015316;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 27 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 27 [DO Concept]
Genes related to phenotype
- Glutamate receptor, ionotropic, n-methyl-D-aspartate, subunit 2b [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chorea [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Infantile spasms syndrome [ORDO Disease]
See also inter- (CISMeF)
- GRIN2B wt Allele [NCIt concept]
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