# Pitt-Hopkins syndrome

> rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea

**Wikidata**: [Q1164401](https://www.wikidata.org/wiki/Q1164401)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Pitt–Hopkins_syndrome)  
**Source**: https://4ort.xyz/entity/pitt-hopkins-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
5. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/096f830c-0065-456a-9e26-db54fd157981--2018-05-02T13:07:00)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/096f830c-0065-456a-9e26-db54fd157981--2018-05-02T17:00:00)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_096f830c-0065-456a-9e26-db54fd157981-2018-05-02T170000.000Z)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196628/MONDO_0012589)
10. YSO-Wikidata mapping project
11. [Identifiers.org](https://registry.identifiers.org/registry/doid)