Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked

Preferred Label : Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked;

Symbol : RESDX;

CISMeF acronym : RESDX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked;

Prefixed ID : #300643;

Details

Origin ID

300643;

UMLS CUI

C1845070;

Automatic exact mappings (from CISMeF team)
- Rolandic epilepsy-speech dyspraxia syndrome [ORDO Disease]
Broader ORDO disease(s)
- Rolandic epilepsy-speech dyspraxia syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- rolandic epilepsy, mental retardation, and speech dyspraxia, X-Linked [MeSH concept]
- rolandic epilepsy, mental retardation, and speech dyspraxia, X-Linked [MeSH Supplementary Concept]
Genes related to phenotype
- Sushi repeat-containing protein, X-linked, 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral perisylvian polymicrogyria [HPO term]
- Focal-onset seizure [HPO term]
- Frontoparietal polymicrogyria [HPO term]
- Intellectual disability, mild [HPO term]
- Seizure [HPO term]
- Speech apraxia [HPO term]
ORDO concept(s)
- Rolandic epilepsy-speech dyspraxia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- rolandic epilepsy, mental retardation, and speech dyspraxia, X-Linked [MeSH Supplementary Concept]
- rolandic epilepsy, mental retardation, and speech dyspraxia, X-Linked [MeSH concept]

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