Developmental and epileptic encephalopathy 33

Preferred Label : Developmental and epileptic encephalopathy 33;

Symbol : DEE33;

CISMeF acronym : EIEE33;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 33; EIEE33;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the eukaryotic translation elongation factor 1, alpha-2 gene (EEF1A2, 602959.0001);

Prefixed ID : #616409;

Details

Origin ID

616409;

UMLS CUI

C4225337;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 33 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 33 [DO Concept]
Genes related to phenotype
- Eukaryotic translation elongation factor 1, alpha-2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Epileptic encephalopathy [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile onset [HPO term]
- Microcephaly [HPO term]
- Neonatal hypotonia [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Unsteady gait [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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