Developmental and epileptic encephalopathy 84

Preferred Label : Developmental and epileptic encephalopathy 84;

Symbol : DEE84;

CISMeF acronym : EIEE84;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Jamuar syndrome; EIEE84; Epileptic encephalopathy, early ifantile, 84;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the UDP-glucose dehydrogenase gene (UGDH, 603370.0001);

Prefixed ID : #618792;

Details

Origin ID

618792;

UMLS CUI

C5394081;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 84 [DO Concept]
Genes related to phenotype
- Udp-glucose dehydrogenase [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Blepharophimosis [HPO term]
- Chorea [HPO term]
- Deeply set eye [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed ability to sit [HPO term]
- Dystonia [HPO term]
- EEG with burst suppression [HPO term]
- Epicanthus [HPO term]
- Epileptic encephalopathy [HPO term]
- Epileptic spasm [HPO term]
- Gastrostomy tube feeding in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Hyperreflexia [HPO term]
- Hypsarrhythmia [HPO term]
- Large earlobe [HPO term]
- Microcephaly [HPO term]
- Opisthotonus [HPO term]
- Plagiocephaly [HPO term]
- Pointed chin [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Short palpebral fissure [HPO term]
- Smooth philtrum [HPO term]
- Spasticity [HPO term]
- Synophrys [HPO term]
- Thick lower lip vermilion [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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