trigonocephaly 2
MONDO:0013774Mondo
Findings
No curated finding names trigonocephaly 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013774), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
6 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.
- TrigonocephalyHPOHP:0000243
- 3 of 3 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 2 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 2 reported patients
- Wide nasal bridgeHPOHP:0000431
- 1 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 3 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.
- FREM1HGNC:23399
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Ambry Genetics · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: trigonocephaly 2
- Also called
- FREM1 isolated trigonocephalyisolated trigonocephaly caused by mutation in FREM1trigonocephaly type 2