Developmental and epileptic encephalopathy 15

Preferred Label : Developmental and epileptic encephalopathy 15;

Symbol : DEE15;

CISMeF acronym : EIEE15;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE15; Epileptic encephalopathy, early infantile, 15;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene (ST3GAL3, 606494.0003);

Prefixed ID : #615006;

Details

Origin ID

615006;

UMLS CUI

C3554316;

Currated CISMeF NLP mapping
- Early infantile epileptic encephalopathy with burst-suppression [MedDRA Preferred Term]
- Early infantile epileptic encephalopathy with suppression bursts (disorder) [SNOMED CT concept]
- Ohtahara syndrome [MedDRA LLT]
- developmental and epileptic encephalopathy 15 [DO Concept]
- early infantile epileptic encephalopathy [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 15 [DO Concept]
Genes related to phenotype
- St3 beta-galactoside alpha-2,3-sialyltransferase 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Central hypotonia [HPO term]
- Encephalopathy [HPO term]
- Epileptic encephalopathy [HPO term]
- Epileptic spasm [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Inability to walk [HPO term]
- Intellectual disability, profound [HPO term]
- Irritability [HPO term]
- Poor eye contact [HPO term]
- Primitive reflex [HPO term]
ORDO concept(s)
- Infantile spasms syndrome [ORDO Disease]
See also inter- (CISMeF)
- Early Infantile Epileptic Encephalopathy with Burst-Suppression [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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