# early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

> human disease

**Wikidata**: [Q55784798](https://www.wikidata.org/wiki/Q55784798)  
**Source**: https://4ort.xyz/entity/early-onset-epileptic-encephalopathy-cortical-blindness-intellectual-disability-facial-dysmorphism-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness