craniosynostosis 6
MONDO:0014705Mondo
Findings
No curated finding names craniosynostosis 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014705), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
22 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.
- CraniosynostosisHPOHP:0001363
- 9 of 9 reported patients
- Bicoronal synostosisHPOHP:0011318
- 6 of 9 reported patients
- StrabismusHPOHP:0000486
- 5 of 9 reported patients
- High foreheadHPOHP:0000348
- 3 of 9 reported patients
- HypotoniaHPOHP:0001252
- 3 of 9 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 9 reported patients
- PtosisHPOHP:0000508
Show the remaining 10
- BrachycephalyHPOHP:0000248
- 1 of 9 reported patients
- Dandy-Walker malformationHPOHP:0001305
- 1 of 9 reported patients
- HypertelorismHPOHP:0000316
- 1 of 9 reported patients
- Parietal foraminaHPOHP:0002697
- 1 of 9 reported patients
- PlagiocephalyHPOHP:0001357
- 1 of 9 reported patients
- Right unilambdoid synostosisHPOHP:0011322
- 1 of 9 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.
- ZIC1HGNC:12872
- Definitive · ClinGen · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: craniosynostosis 6
- Also called
- craniosynostosis caused by mutation in ZIC1craniosynostosis type 6ZIC1 craniosynostosis