Developmental and epileptic encephalopathy 47

Preferred Label : Developmental and epileptic encephalopathy 47;

Symbol : DEE47;

CISMeF acronym : EIEE47;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 47; EIEE47;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor 12 gene (FGF12, 601513.0001);

Prefixed ID : #617166;

Détails

Origin ID

617166;

UMLS CUI

C4310685;

Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 47 [NCIt concept]
- developmental and epileptic encephalopathy 47 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 47 [DO Concept]
Genes related to phenotype
- Fibroblast growth factor 12 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Chronic constipation [HPO term]
- Developmental regression [HPO term]
- EEG abnormality [HPO term]
- Epileptic encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Gait disturbance [HPO term]
- Hypsarrhythmia [HPO term]
- Inability to walk [HPO term]
- Limb ataxia [HPO term]
- Multifocal epileptiform discharges [HPO term]
- Optic disc pallor [HPO term]
- Poor speech [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Status epilepticus [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
See also inter- (CISMeF)
- FGF12 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 47 [NCIt concept]

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