Developmental and epileptic encephalopathy 58

Preferred Label : Developmental and epileptic encephalopathy 58;

Symbol : DEE58;

CISMeF acronym : EIEE58;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 58; EIEE58;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neurotrophic tyrosine kinase, receptor, type 2 gene NTRK2 gene (600456.0003);

Prefixed ID : #617830;

Details

Origin ID

617830;

UMLS CUI

C4693367;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 58 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 58 [DO Concept]
Genes related to phenotype
- Neurotrophic tyrosine kinase, receptor, type 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Delayed myelination [HPO term]
- Epileptic encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypsarrhythmia [HPO term]
- Inability to walk [HPO term]
- Intellectual disability, severe [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Spastic diplegia [HPO term]
- Status epilepticus [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
See also inter- (CISMeF)
- NTRK2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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