structural brain anomalies with impaired intellectual development and craniosynostosis
MONDO:0032892Mondo
Findings
No curated finding names structural brain anomalies with impaired intellectual development and craniosynostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
21 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.
- Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients
- Bicoronal synostosisHPOHP:0011318
- 6 of 9 reported patients · Congenital onset
- StrabismusHPOHP:0000486
- 5 of 9 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 3 of 9 reported patients
- High foreheadHPOHP:0000348
- 3 of 9 reported patients
- Hypoplasia of the ponsHPOHP:0012110
- 3 of 9 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 9 reported patients
- PtosisHPOHP:0000508
- 3 of 9 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 9 reported patients
- Delayed closure of the anterior fontanelleHPOHP:0001476
- 2 of 9 reported patients
- Lateral ventricle dilatationHPOHP:0006956
- 2 of 9 reported patients
- ScoliosisHPOHP:0002650
- 2 of 9 reported patients
Show the remaining 9
- Spina bifida occultaHPOHP:0003298
- 2 of 9 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 9 reported patients
- Dandy-Walker malformationHPOHP:0001305
- 1 of 9 reported patients
- Flat occiputHPOHP:0005469
- 1 of 9 reported patients
- Lambdoidal craniosynostosisHPOHP:0004443
- 1 of 9 reported patients
- Low anterior hairlineHPOHP:0000294
- 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
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of