Developmental and epileptic encephalopathy 32

Preferred Label : Developmental and epileptic encephalopathy 32;

Symbol : DEE32;

CISMeF acronym : EIEE32;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE32; Epileptic encephalopathy, early infantile, 32;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium channel, voltage-gated, shaker-related subfamily, member 2 gene (KCNA2, 176262.0001);

Prefixed ID : #616366;

Détails

Origin ID

616366;

UMLS CUI

C4225350;

Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 32 [NCIt concept]
- developmental and epileptic encephalopathy 32 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 32 [DO Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, shaker-related subfamily, member 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Epileptic encephalopathy [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Myoclonus [HPO term]
- Seizure [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 32 [NCIt concept]

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

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