Coffin-Siris syndrome 7
MONDO:0054831Mondo
Findings
No curated finding names Coffin-Siris syndrome 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene.
Definition from the Mondo Disease Ontology (MONDO:0054831), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
52 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed speech and language developmentHPOHP:0000750
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- Hypoplastic fifth toenailHPOHP:0011937
- 8 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 6 of 7 reported patients
- Sparse scalp hairHPOHP:0002209
- 6 of 7 reported patients
- ConstipationHPO
Show the remaining 40
- Prominent foreheadHPOHP:0011220
- 5 of 8 reported patients
- Thick nasal alaeHPOHP:0009928
- 5 of 8 reported patients
- HypotoniaHPOHP:0001252
- 4 of 7 reported patients
- Low-set earsHPOHP:0000369
- 4 of 7 reported patients
- Hearing impairmentHPOHP:0000365
- 4 of 8 reported patients
- Short philtrumHPOHP:0000322
- 4 of 8 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DPF2HGNC:9964
- Strong · Illumina · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of