Developmental and epileptic encephalopathy 46

Preferred Label : Developmental and epileptic encephalopathy 46;

Symbol : DEE46;

CISMeF acronym : EIEE46;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 46; EIEE46;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2D gene (GRIN2D, 602717.0001);

Prefixed ID : #617162;

Details

Origin ID

617162;

UMLS CUI

C4310687;

Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 46 [NCIt concept]
- developmental and epileptic encephalopathy 46 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 46 [DO Concept]
Genes related to phenotype
- Glutamate receptor, ionotropic, n-methyl-D-aspartate, subunit 2d [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Dysphagia [HPO term]
- Epileptic encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hypertonia [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile onset [HPO term]
- Microcephaly [HPO term]
- Pes planus [HPO term]
- Phenotypic variability [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]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 46 [NCIt concept]
- developmental and epileptic encephalopathy 46 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients