FOXG1 disorder
MONDO:0100040Mondo
Findings
No curated finding names FOXG1 disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A monogenic disease that has material basis in mutation in the FOXG1 gene.
Definition from the Mondo Disease Ontology (MONDO:0100040), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
67 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.
- Absent speechHPOHP:0001344
- 11 of 11 reported patients
- Frequent (30% to 79% of cases)
- Delayed ability to sitHPOHP:0025336
- 14 of 14 reported patients
- Delayed ability to walkHPOHP:0031936
- 14 of 14 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Focal-onset seizureHPOHP:0007359
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- 10 of 10 reported patients
Show the remaining 55
- Simplified gyral patternHPOHP:0009879
- 11 of 11 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 9 of 10 reported patients
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- 13 of 15 reported patients
- Occasional (5% to 29% of cases)
- DyskinesiaHPOHP:0100660
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- 12 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
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.
- FOXG1HGNC:3811
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · ClinGen · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
6 names
Resolves to: FOXG1 disorder
- Also called
- FOXG1 inherited genetic diseaseFOXG1 syndromeFOXG1 syndrome due to intragenic alterationFOXG1-related epileptic-dyskinetic encephalopathyinherited genetic disease caused by mutation in FOXG1Rett syndrome, congenital variant