Developmental and epileptic encephalopathy 59

Preferred Label : Developmental and epileptic encephalopathy 59;

Symbol : DEE59;

CISMeF acronym : EIEE59;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE59; Epileptic encephalopathy, early infantile, 59;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-aminobutyric acid B receptor 2 gene (GABBR2, 607340.0004);

Prefixed ID : #617904;

Details

Origin ID

617904;

UMLS CUI

C4693550;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 59 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 59 [DO Concept]
Genes related to phenotype
- Gamma-aminobutyric acid b receptor 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Drooling [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Poor head control [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Sleep disturbance [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Atypical Rett syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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