Clinical data for patients with deletion 14q12 or FOXG1 mutations
| This report N=11 | Literature1–5 9–13 N=15 | |
| FOXG1 mechanism | 4 CYTO, 7 intragenic | 5 CYTO, 10 intragenic |
| Subject demographics | ||
| Sex | 5 female:6 male | 14 female:1 male |
| Age last follow-up | 2 years to 31 years | 10 months to 22 years |
| Growth | ||
| Weight birth (%) | 10/10 normal (10–90%) | 15/15 (10–90%) |
| Length birth (%) | 9/9 normal (10–75%) | 14/14 (25–90%) |
| OFC birth (SD) | 5/7 (0 to −2 SD); 2/7 (–2.5 SD) | 4/14 (+1 to 0 SD); 10/13 (0 to −2) |
| Weight age 1–2 years (SD), age | 5/6 (−1.5 to −2.6 SD); 1/6 25% | Insufficient data |
| Length age 1–2 years (SD), age | 5/6 (0 to −2 SD); 1/6 (–3.5 SD) | Insufficient data |
| OFC age 1–2 years (SD), age | 8/8 (−2.5 to −6 SD) | Insufficient data |
| Weight most recent (SD), age | 4/10 (−1 to −2 SD); 6/10 (–2 to −5.5 SD) | 6/9 (−1 to −2 SD); 3/9 (–3 SD) |
| Length most recent (SD), age | 2/8 (−1 to −2 SD); 5/8 (–2 to −5 SD) | 6/9 (−0 to −2 SD); 2/9 (–3.5 to −4) |
| OFC most recent (SD), age | 9/9 (−2.5 to −5.5 SD) | 12/12 (−2 to −5 SD) |
| Development | ||
| Developmental delay (DD) | 11/11 DD | |
| Mental retardation (MR) | 11/11 MR | 15/15 MR |
| Mental retardation (severity) | 11/11 severe | 5/5 severe |
| Speech–language development | 11/11 no language | 13/14 no language |
| Social interaction (eye contact) | 10/10 poor | 7/9 poor |
| Sitting (age) | 3/10 sit, all late | 3/13 sit |
| Walking (age) | 1/11 walk, late | 1/15 walk |
| Loss of psychomotor skills (age) | 2/11 vague history loss skills | 8–11 regression |
| Behaviour, sleep, autonomic | ||
| Sleep pattern | 8/11 poor sleep pattern | 4/8 poor sleep pattern |
| Irritability | 5/10 excess irritability | Insufficient data |
| Crying/weeping (inconsolable) | 6/10 excess crying | 3/6 excess crying |
| Laughing (inappropriate) | 0/11 excess laughing | Insufficient data |
| Motor and dyskinesias | ||
| Hypotonia | 10/10 hypotonia | 6/6 hypotonia |
| Spasticity | 7/9 spasticity | 1/2 insufficient data |
| Functional hand use | 8/11 no hand use | 8/10 no hand use |
| Stereotypic movements | 8/11 stereotypies | 10/10 stereotypies |
| Dyskinesias (chorea, dystonia) | 8/10 dyskinesia (or all?) | 10/10 dyskinesia |
| Strabismus | insufficient data | 9/9 strabismus |
| Bruxism | 5/8 bruxism | 10/13 bruxism |
| Drooling (sialorrhea) | No data | 7/9 drooling |
| Epilepsy | ||
| Seizures (age onset) | 8/10 seizures | 10/15 seizures (6 months to 14 years) |
| Seizure types (specify) | CPS, FTCS, GTCS | CPS, GTCS, myoclonic |
| Gastrointestinal and respiratory systems | ||
| Feeding difficulties | 9/11 poor feeding | 5/6 poor feeding |
| Aspiration | 6/10 aspiration | Insufficient data |
| Gastro-oesophageal reflux (GER) | 9/10 GER often severe | 5/5 GER |
| Constipation | Insufficient data | 6/6 constipation |
| Breathing abnormalities | Non-specific | 3/5 abnormal respirations |
| Other abnormalities | ||
| Facial dysmorphism | 2/3 with deletions | 4/4 with deletions |
| Scoliosis | Insufficient data | 4/11 scoliosis |
CPS, complex partial seizures; CYTO, cytogenetic abnormality; FTCS, focal tonic-clonic seizures; GER, gastro-oesophageal reflux; GTCS, generalised tonic-clonic seizures; OFC, occipitofrontal circumference.