Developmental and epileptic encephalopathy 69

Preferred Label : Developmental and epileptic encephalopathy 69;

Symbol : DEE69;

CISMeF acronym : EIEE69;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 69; EIEE69;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calcium channel, voltage-dependent, alpha-1E subunit gene (CACNA1E, 601013.0001);

Prefixed ID : #618285;

Details

Origin ID

618285;

UMLS CUI

C4748988;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 69 [DO Concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, alpha-1e subunit [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral cortical atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Congenital contracture [HPO term]
- Corpus callosum atrophy [HPO term]
- Developmental regression [HPO term]
- Dystonia [HPO term]
- EEG abnormality [HPO term]
- Epileptic encephalopathy [HPO term]
- Hyperkinetic movements [HPO term]
- Hyperreflexia [HPO term]
- Hypsarrhythmia [HPO term]
- Inability to walk [HPO term]
- Macrocephaly [HPO term]
- Myoclonus [HPO term]
- Nystagmus [HPO term]
- Spastic tetraplegia [HPO term]
- Status epilepticus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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