Table 1.
Demographic and clinical features of individuals with pathogenic FBXW7 variants
| Feature | Value | Feature | Value |
|---|---|---|---|
| Demographic features | Ophthalmologic features | ||
| Sex | 37 male / 12 female | Strabismus | 7/44 |
| Age range | 2 months − 44 years, 6 months | Abnormality of refraction | 6/44 |
| Medical history | Ptosis | 3/44 | |
| Prenatal history | Generally normal; isolated premature birth reported | Cerebral visual impairment | 1/44 |
| Development, cognition, and psychiatric features | Astigmatism | 1/44 | |
| Neurodevelopmental abnormality | 48/49 | Cardiac features | |
| GDD or ID | 40/49 | Abnormal heart morphology | 10/46 |
| Delayed speech and/or language impairment | 31/49 | Septal defects (VSD; atrial defect) | 4/46 |
| Specific learning disability | 2/49 | Valve anomalies (bicuspid aortic valve; mildly dysplastic tricuspid aortic valve) | 3/46 |
| Autism spectrum disorder | 3/49 | Other vascular/patency anomalies (PDA surgery; persistent left superior vena cava to coronary sinus) | 2/46 |
| No neurodevelopmental abnormality | 1/49 | Interrupted aortic arch with subaortic stenosis | 1/46 |
| Neurologic or CNS features | Respiratory features | ||
| Hypotonia | 32/49 | Recurrent respiratory infections or pneumonia | 6/46 |
| Abnormality of brain morphology | 18/27 | Congenital diaphragmatic hernia | 1/49 |
| Seizures | 13/49 | Audiology and hearing | |
| Macrocephaly | 16/49 | Mixed hearing impairment | 2/42 |
| Microcephaly | 2/49 | Oral, dentition, and other ENT features | |
| Hypertonia | 3/49 | Abnormal palate or uvula morphology | 10/37 |
| Ataxia | 3/49 | Laryngeal cleft | 1/42 |
| Developmental regression | 1/49 | Gastrointestinal and feeding features | |
| Craniofacial and dysmorphic features | Constipation | 18/47 | |
| Any facial dysmorphism | 45/48 | Feeding difficulties | 14/47 |
| Deep-set eyes | 11/48 | Gastroesophageal reflux | 8/47 |
| High/arched/ogival palate | 10/48 | Intestinal malrotation | 1/47 |
| Broad/prominent forehead | 8/48 | Renal and genitourinary features | |
| Hypertelorism | 7/48 | Cryptorchidism | 5/37 males |
| Epicanthal folds | 7/48 | Renal anomalies | 3/45 |
| Low/depressed nasal bridge | 6/48 | Hydrocele | 2/37 males |
| Synophrys | 4/48 | Hematological and vascular features | |
| Small mouth | 4/48 | Neutropenia | 2/42 |
| Low-set ears | 3/48 | Anemia | 1/42 |
| Cleft palate | 3/48 | Venous thrombosis | 1/42 |
| Thin upper lip | 2/48 | Malignancy | |
| Micrognathia/chin hypoplasia | 2/48 | Wilms tumor | 2/49 |
| Thick eyebrows | 2/48 | ||
| Long palpebral fissures | 1/48 | ||
| Downslanting palpebral fissures | 1/48 | ||
| Facial asymmetry | 1/48 |
Features are reported as n/N; denominators vary according to data availability
Data compiled from Stephenson et al., 2022 (n = 35); Meier-Abt et al., 2024 (n = 1); Pande et al., 2024 (n = 1); Wang et al., 2024 (n = 1); Zhou et al., 2024 (n = 2); Saito et al., 2025 (n = 1); Kim and Lim, 2025 (n = 1); and our cohort (n = 7)
Abbreviations: DD developmental delay, GDD global developmental delay, ID intellectual disability, CNS central nervous system, VSD ventricular septal defect, PDA patent ductus arteriosus