Developmental and epileptic encephalopathy 72

Preferred Label : Developmental and epileptic encephalopathy 72;

Symbol : DEE72;

CISMeF acronym : EIEE72;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE72; Epileptic encephalopathy, early infantile, 72;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neurogenic differentiation 2 gene (NEUROD2, 601725.0001);

Prefixed ID : #618374;

Details

Origin ID

618374;

UMLS CUI

C5193063;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 72 [DO Concept]
Genes related to phenotype
- Neurogenic differentiation 2 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Delayed ability to walk [HPO term]
- Dysphagia [HPO term]
- Epileptic encephalopathy [HPO term]
- Esotropia [HPO term]
- Global developmental delay [HPO term]
- Hyperkinetic movements [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypsarrhythmia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Poor eye contact [HPO term]
- Seizure [HPO term]
- Variable expressivity [HPO term]
See also inter- (CISMeF)
- NEUROD2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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