Developmental and epileptic encephalopathy 88

Preferred Label : Developmental and epileptic encephalopathy 88;

Symbol : DEE88;

CISMeF acronym : EIEE88;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 88; EIEE88;

Prefixed ID : #618959;

Details

Origin ID

618959;

UMLS CUI

C5394553;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 88 [DO Concept]
Genes related to phenotype
- Malate dehydrogenase, soluble [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Depressed nasal bridge [HPO term]
- Epileptic encephalopathy [HPO term]
- Everted lower lip vermilion [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- High forehead [HPO term]
- Hyperglutamatemia [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the pons [HPO term]
- Hypsarrhythmia [HPO term]
- Infra-orbital crease [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Progressive microcephaly [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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