Developmental and epileptic encephalopathy 65

Preferred Label : Developmental and epileptic encephalopathy 65;

Symbol : DEE65;

CISMeF acronym : EIEE65;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE65; Epileptic encephalopathy, early infantile, 65;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cytoplasmic FMRP-interacting protein 2 gene (CYFIP2, 606323.0001);

Prefixed ID : #618008;

Details

Origin ID

618008;

UMLS CUI

C4693925;

Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 65 [NCIt concept]
- developmental and epileptic encephalopathy 65 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 65 [DO Concept]
Genes related to phenotype
- Cytoplasmic fmrp-interacting protein 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- EEG with burst suppression [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Highly arched eyebrow [HPO term]
- Hyperreflexia [HPO term]
- Hypsarrhythmia [HPO term]
- Microcephaly [HPO term]
- Plagiocephaly [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Tented upper lip vermilion [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 65 [NCIt concept]

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