Developmental and epileptic encephalopathy 74

Preferred Label : Developmental and epileptic encephalopathy 74;

Symbol : DEE74;

CISMeF acronym : EIEE74;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 74; EIEE74;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-aminobutyric acid receptor, gamma-2 gene (GABRG2, 137164.0006);

Prefixed ID : #618396;

Détails

Origin ID

618396;

UMLS CUI

C5193074;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 74 [DO Concept]
Genes related to phenotype
- Gamma-aminobutyric acid receptor, gamma-2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Infantile onset [HPO term]
- Nystagmus [HPO term]
- Severe global developmental delay [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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