FG syndrome 4
MONDO:0010318Mondo
Findings
No curated finding names FG syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any FG syndrome in which the cause of the disease is a mutation in the CASK gene.
Definition from the Mondo Disease Ontology (MONDO:0010318), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
HPO, annotations 2026-09-02
Features
10 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.
- Neonatal hypotoniaHPOHP:0001319
- 6 of 8 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 4 of 6 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 5 of 8 reported patients
- SeizureHPOHP:0001250
- 5 of 8 reported patients
- Prominent foreheadHPOHP:0011220
- 3 of 8 reported patients
- ScoliosisHPOHP:0002650
- 2 of 8 reported patients
- Global developmental delayHPOHP:0001263
- HypertelorismHPOHP:0000316
- Intellectual disabilityHPOHP:0001249
- Wide nasal bridgeHPOHP:0000431
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.
- CASKHGNC:1497
- Definitive · Ambry Genetics · X-linked · 2015
- Definitive · G2P · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
Where it sits
Other names
5 names
Resolves to: FG syndrome 4
- Also called
- CASK FG syndromeCASK-related FG syndromeFG syndrome caused by mutation in caskFG syndrome type 4FGS4