Developmental and epileptic encephalopathy 6b

Preferred Label : Developmental and epileptic encephalopathy 6b;

Symbol : DEE6B;

Type : Phenotype, molecular basis known;

Prefixed ID : #619317;

Détails

Origin ID

619317;

UMLS CUI

C5543353;

Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Arachnoid cyst [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Brisk reflexes [HPO term]
- Chorea [HPO term]
- Choreoathetosis [HPO term]
- Dystonia [HPO term]
- EEG with spike-wave complexes (>3.5 Hz) [HPO term]
- Epileptic spasm [HPO term]
- Focal hemiclonic seizure [HPO term]
- Focal-onset seizure [HPO term]
- Gastrostomy tube feeding in infancy [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Hyperkinetic movements [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic hippocampus [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, profound [HPO term]
- Multifocal epileptiform discharges [HPO term]
- Myoclonic absence seizure [HPO term]
- Myoclonic seizure [HPO term]
- Myoclonus [HPO term]
- Narrow mouth [HPO term]
- Nystagmus [HPO term]
- Scoliosis [HPO term]
- Spasmus nutans [HPO term]
- Status epilepticus without prominent motor symptoms [HPO term]
- Sudden unexpected death in epilepsy [HPO term]
- Tonic seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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