Developmental and epileptic encephalopathy 56

Preferred Label : Developmental and epileptic encephalopathy 56;

Symbol : DEE56;

CISMeF acronym : EIEE56;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 56; EIEE56;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma isoform gene (YWHAG, 605356.0001);

Prefixed ID : #617665;

Details

Origin ID

617665;

UMLS CUI

C4540034;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 56 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 56 [DO Concept]
Genes related to phenotype
- Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma isoform [OMIM gene]
HPO term(s)
- Action tremor [HPO term]
- Anxiety [HPO term]
- Ataxia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad-based gait [HPO term]
- EEG abnormality [HPO term]
- EEG with polyspike wave complexes [HPO term]
- Focal motor seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Myoclonic seizure [HPO term]
- Obsessive-compulsive trait [HPO term]
- Poor coordination [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Status epilepticus [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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