# Kaufman oculocerebrofacial syndrome

> . An autosomal recessive mode of inheritance seems most likely.

**Wikidata**: [Q6378691](https://www.wikidata.org/wiki/Q6378691)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Kaufman_oculocerebrofacial_syndrome)  
**Source**: https://4ort.xyz/entity/kaufman-oculocerebrofacial-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5604d13c-a46a-4a83-87ec-e4e94bbed3f0-2021-07-30T130354.346Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000151148/MONDO_0009485)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)