Developmental and epileptic encephalopathy 28

Preferred Label : Developmental and epileptic encephalopathy 28;

Symbol : DEE28;

CISMeF acronym : EIEE28;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE28; Epileptic encephalopathy, early infantile, 28;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WW domain-containing oxidoreductase gene (WWOX, 605131.0004);

Prefixed ID : #616211;

Details

Origin ID

616211;

UMLS CUI

C4015519;

Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 28 [NCIt concept]
- developmental and epileptic encephalopathy 28 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 28 [DO Concept]
Genes related to phenotype
- Ww domain-containing oxidoreductase [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Delayed myelination [HPO term]
- Epileptic encephalopathy [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypokinesia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Microcephaly [HPO term]
- Optic atrophy [HPO term]
- Progressive microcephaly [HPO term]
- Retinal degeneration [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
See also inter- (CISMeF)
- WWOX wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 28 [NCIt concept]

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