Developmental and epileptic encephalopathy 31a

Preferred Label : Developmental and epileptic encephalopathy 31a;

Symbol : DEE31A;

CISMeF acronym : EIEE31;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE31; Epileptic encephalopathy, early infantile, 31; DEE31;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the dynamin 1 gene (DNM1, 602377.0001);

Prefixed ID : #616346;

Details

Origin ID

616346;

UMLS CUI

C4225357;

Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 31 [NCIt concept]
- developmental and epileptic encephalopathy 31 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 31 [DO Concept]
Genes related to phenotype
- Dynamin 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Developmental regression [HPO term]
- Difficulty walking [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
ORDO concept(s)
- Lennox-Gastaut syndrome [ORDO Disease]
- 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 31 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients