Developmental and epileptic encephalopathy 63

Preferred Label : Developmental and epileptic encephalopathy 63;

Symbol : DEE63;

CISMeF acronym : EIEE63;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 63; EIEE63;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the complexin 1 gene (CPLX1, 605032.0001);

Prefixed ID : #617976;

Details

Origin ID

617976;

UMLS CUI

C4693810;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 63 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 63 [DO Concept]
Genes related to phenotype
- Complexin 1 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral cortical atrophy [HPO term]
- Delayed ability to walk [HPO term]
- Epileptic encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Midface retrusion [HPO term]
- Overlapping toe [HPO term]
- Seizure [HPO term]
- Thin upper lip vermilion [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients