Developmental and epileptic encephalopathy 9

Preferred Label : Developmental and epileptic encephalopathy 9;

Symbol : DEE9;

CISMeF acronym : EIEE9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Juberg-hellman syndrome; Epilepsy, female-restricted, with mental retardation; EFMR; Epileptic encephalopathy, early infantile, 9; EIEE9;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the protocadherin 19 gene (PCDH19, 300460.0001).;

Prefixed ID : #300088;

Détails

Origin ID

300088;

UMLS CUI

C1848137;

Currated CISMeF NLP mapping
- Female restricted epilepsy with intellectual disability [ORDO Disease]
- Female restricted epilepsy with intellectual disability syndrome (disorder) [SNOMED CT concept]
- developmental and epileptic encephalopathy 9 [DO Concept]
- epilepsy in females with mental retardation [Disease (Nov.)]
- epilepsy, Female-Restricted, with mental retardation [MeSH concept]
- epilepsy, Female-Restricted, with mental retardation [MeSH Supplementary Concept]
DO Cross reference
- developmental and epileptic encephalopathy 9 [DO Concept]
Genes related to phenotype
- Protocadherin 19 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Atonic seizure [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Developmental regression [HPO term]
- Epilepsy [HPO term]
- Focal-onset seizure [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Psychosis [HPO term]
- Status epilepticus [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Female restricted epilepsy with intellectual disability [ORDO Disease]
- X-linked intellectual disability-epilepsy syndrome [ORDO Disease]
See also inter- (CISMeF)
- protocadherin 19 [ORDO Gene]
- protocadherin 19 [HGNC gene]
- symbol withdrawn EFMR [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 9 [NCIt concept]
- Female restricted epilepsy with intellectual disability [ORDO Disease]
- epilepsy, Female-Restricted, with mental retardation [MeSH Supplementary Concept]
- epilepsy, Female-Restricted, with mental retardation [MeSH concept]

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