Overview of clinical features in FOXP1 patients
| Characteristics | Our cohort | Literature | Total | |||
| Sex (male:female) | 20:5 | 14:9 | 34:14 | |||
| Mild/moderate motor delay | 15/24 | 63% | 15/21 | 71% | 30/45 | 67% |
| Severe motor delay | 7/24 | 29% | 6/21 | 29% | 13/45 | 29% |
| Mild/moderate intellectual disability | 15/24 | 63% | 13/19 | 68% | 28/43 | 65% |
| Severe intellectual disability | 8/24 | 33% | 6/19 | 32% | 14/43 | 33% |
| Speech and language delay | 23/23 | 100% | 19/19 | 100% | 42/42 | 100% |
| Expressive language delay | 18/19 | 95% | 11/11 | 100% | 29/30 | 97% |
| Articulation problems | 9/11 | 82% | 10/10 | 100% | 19/21 | 90% |
| Poor grammar | 5/7 | 71% | 4/4 | 100% | 9/11 | 82% |
| Oromotor dysfunction | 10/17 | 59% | 4/10 | 40% | 14/27 | 52% |
| Behavioural difficulties | 12/19 | 63% | 10/13 | 77% | 22/32 | 69% |
| Autistic features | 14/20 | 70% | 10/12 | 83% | 24/32 | 75% |
| Abnormal tonicity | 14/21 | 67% | 12/14 | 86% | 26/35 | 74% |
| Spasticity/contractures | 10/19 | 53% | 8/10 | 80% | 18/29 | 62% |
| Abnormal reflexes | 3/17 | 18% | 5/8 | 63% | 8/25 | 32% |
| Seizures | 3/22 | 14% | 4/11 | 36% | 7/33 | 21% |
| Abnormal brain imaging | 11/23 | 48% | 10/14 | 71% | 21/37 | 57% |
| Abnormal electroencephalography | 2/12 | 17% | 2/9 | 22% | 4/21 | 19% |
| Failure to thrive | 8/22 | 36% | 7/15 | 47% | 15/37 | 41% |
| Feeding difficulties | 16/24 | 67% | 8/11 | 73% | 24/35 | 69% |
| Obesity | 0/23 | 0% | 2/11 | 18% | 2/34 | 6% |
| Broad, prominent forehead | 23/24 | 96% | 11/15 | 73% | 34/39 | 87% |
| Frontal hair upsweep | 10/24 | 42% | 5/14 | 36% | 15/38 | 39% |
| Hypertelorism | 11/24 | 46% | 9/16 | 56% | 20/40 | 50% |
| Downslanting palpebral fissures | 14/24 | 58% | 7/14 | 50% | 21/38 | 55% |
| Bent palpebral fissures | 5/16 | 31% | – | – | 5/16 | 31% |
| Ptosis | 16/24 | 67% | 6/9 | 67% | 22/33 | 67% |
| Blepharophimosis | 4/24 | 17% | 1/11 | 9% | 5/35 | 14% |
| Short nose | 17/24 | 71% | 10/15 | 67% | 27/39 | 69% |
| Broad nose tip | 19/24 | 79% | 9/15 | 60% | 28/39 | 72% |
| Pronounced nasolabial folds | 10/24 | 42% | 1/9 | 11% | 11/33 | 33% |
| Wide mouth with full lips | 14/24 | 58% | 2/14 | 14% | 16/38 | 42% |
| Pronounced vermilion border | 16/22 | 73% | – | – | 16/22 | 73% |
| Downturned corners of the mouth | 14/24 | 58% | 4/10 | 40% | 18/34 | 53% |
| Open mouth | 12/20 | 60% | 6/9 | 67% | 18/29 | 62% |
| Prominent chin | 9/22 | 41% | – | – | 9/22 | 41% |
| Horizontal chin crease | 10/22 | 45% | – | – | 10/22 | 45% |
| Hypoplastic upper ear helix | 5/24 | 21% | 3/13 | 23% | 8/37 | 22% |
| Prominent finger pads | 2/22 | 9% | 2/10 | 20% | 4/32 | 13% |
| Single palmar crease | 8/21 | 38% | 5/15 | 33% | 13/36 | 36% |
| Clinodactyly | 6/21 | 29% | 2/14 | 14% | 8/35 | 23% |
| Ophthalmological abnormalities | 17/21 | 81% | 10/14 | 71% | 27/35 | 77% |
| Auditory abnormalities | 2/11 | 18% | 3/9 | 33% | 5/20 | 25% |
| Cardiac abnormalities | 9/19 | 47% | 5/7 | 71% | 14/26 | 54% |
| Renal abnormalities | 1/9 | 11% | 0/3 | 0% | 1/12 | 8% |
| Genitourinary tract abnormalities | 12/23 | 52% | 4/6 | 67% | 16/29 | 55% |