Developmental and epileptic encephalopathy 96

Preferred Label : Developmental and epileptic encephalopathy 96;

Symbol : DEE96;

Type : Phenotype, molecular basis known;

Prefixed ID : #619340;

Details

Origin ID

619340;

UMLS CUI

C5543446;

Genes related to phenotype
- N-ethylmaleimide-sensitive factor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Death in infancy [HPO term]
- EEG with burst suppression [HPO term]
- Epileptic encephalopathy [HPO term]
- Epileptic spasm [HPO term]
- Hydrops fetalis [HPO term]
- Intellectual disability, profound [HPO term]
- Neonatal respiratory distress [HPO term]
- Primary microcephaly [HPO term]
- Small for gestational age [HPO term]
- Tonic seizure [HPO term]
ORDO concept(s)
- Early infantile epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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