Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

Preferred Label : Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders;

Symbol : EPILX1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bathing epilepsy, X-linked; Epilepsy, X-linked, with reflex bathing seizures;

Inheritance : X-linked recessive; X-linked dominant;

Molecular basis : Caused by mutation in the synapsin-1 gene (SYN1, 313440.0001);

Prefixed ID : #300491;

Details

Origin ID

300491;

UMLS CUI

C5774177;

Automatic exact mappings (from CISMeF team)
- epilepsy, X-Linked, with variable learning disabilities and behavior disorders [MeSH concept]
- epilepsy, X-Linked, with variable learning disabilities and behavior disorders [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- X-linked epilepsy-learning disabilities-behavior disorders syndrome [ORDO Disease]
Genes related to phenotype
- Synapsin I [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autistic behavior [HPO term]
- Epilepsy [HPO term]
- Focal-onset seizure [HPO term]
- Macrocephaly [HPO term]
- Seizure [HPO term]
- Specific learning disability [HPO term]
- X-linked dominant inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked epilepsy-learning disabilities-behavior disorders syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked epilepsy with variable learning disabilities and behavior disorders [DO Concept]
- X-linked epilepsy-learning disabilities-behavior disorders syndrome [ORDO Disease]
- epilepsy, X-Linked, with variable learning disabilities and behavior disorders [MeSH Supplementary Concept]
- epilepsy, X-Linked, with variable learning disabilities and behavior disorders [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients