Subgroup analysis of FOXP1 deletions or truncating mutations versus FOXP1 missense mutations
| Characteristics | Deletion or truncation | Missense mutation | p Value | |||
| Sex (male:female) | 21:8 | 4:1 | 1.000 | NS | ||
| Mild/moderate motor delay | 22/28 | 79% | 5/5 | 100% | 0.556 | NS |
| Severe motor delay | 4/28 | 14% | 0/5 | 0% | 1.000 | NS |
| Mild/moderate intellectual disability | 21/28 | 75% | 4/5 | 80% | 1.000 | NS |
| Severe intellectual disability | 6/28 | 21% | 1/5 | 20% | 1.000 | NS |
| Speech and language delay | 28/28 | 100% | 5/5 | 100% | – | – |
| Expressive language delay | 22/23 | 96% | 1/1 | 100% | 1.000 | NS |
| Articulation problems | 13/14 | 93% | 3/4 | 75% | 0.405 | NS |
| Poor grammar | 9/10 | 90% | – | – | – | – |
| Oromotor dysfunction | 10/20 | 50% | 1/3 | 33% | 1.000 | NS |
| Behavioural difficulties | 17/24 | 71% | 4/5 | 80% | 1.000 | NS |
| Autistic features | 17/23 | 74% | 3/4 | 75% | 1.000 | NS |
| Abnormal tonicity | 12/19 | 63% | 3/4 | 75% | 1.000 | NS |
| Spasticity/contractures | 6/16 | 38% | – | – | – | – |
| Abnormal reflexes | 3/15 | 20% | 0/1 | 0% | 1.000 | NS |
| Seizures | 5/22 | 23% | 0/2 | 0% | 1.000 | NS |
| Abnormal brain imaging | 10/22 | 45% | 2/3 | 67% | 0.593 | NS |
| Abnormal electroencephalography | 4/14 | 29% | – | – | – | – |
| Failure to thrive | 6/23 | 26% | 0/3 | 0% | 1.000 | NS |
| Feeding difficulties | 12/21 | 57% | 0/1 | 0% | 0.455 | NS |
| Obesity | 2/24 | 8% | 0/3 | 0% | 1.000 | NS |
| Broad, prominent forehead | 23/26 | 88% | 3/4 | 75% | 0.454 | NS |
| Frontal hair upsweep | 11/26 | 42% | 1/3 | 33% | 1.000 | NS |
| Hypertelorism | 9/25 | 36% | 2/3 | 67% | 0.543 | NS |
| Downslanting palpebral fissures | 14/26 | 54% | 3/4 | 75% | 0.613 | NS |
| Bent palpebral fissures | 4/11 | 36% | 0/1 | 0% | 1.000 | NS |
| Ptosis | 16/24 | 67% | 1/2 | 50% | 1.000 | NS |
| Blepharophimosis | 2/24 | 8% | 0/2 | 0% | 1.000 | NS |
| Short nose | 17/26 | 65% | 2/4 | 50% | 0.611 | NS |
| Broad nose tip | 20/27 | 74% | 2/3 | 67% | 1.000 | NS |
| Pronounced nasolabial folds | 9/24 | 38% | 0/2 | 0% | 0.529 | NS |
| Wide mouth with full lips | 14/24 | 58% | 1/2 | 50% | 1.000 | NS |
| Pronounced vermilion border | 11/15 | 73% | 1/2 | 50% | 0.515 | NS |
| Downturned corners of the mouth | 11/24 | 46% | 1/2 | 50% | 1.000 | NS |
| Open mouth | 13/20 | 65% | 1/2 | 50% | 1.000 | NS |
| Prominent chin | 5/15 | 33% | 1/2 | 50% | 1.000 | NS |
| Horizontal chin crease | 6/15 | 40% | 1/2 | 50% | 1.000 | NS |
| Hypoplastic upper ear helix | 2/24 | 8% | 1/2 | 50% | 0.222 | NS |
| Prominent finger pads | 2/24 | 8% | 2/3 | 67% | 0.049 | <0.05 |
| Single palmar crease | 6/24 | 25% | 1/2 | 50% | 0.474 | NS |
| Clinodactyly | 4/24 | 17% | 0/2 | 0% | 1.000 | NS |
| Ophthalmological abnormalities | 16/21 | 76% | 2/3 | 67% | 0.597 | NS |
| Auditory abnormalities | 0/13 | 0% | – | – | – | – |
| Cardiac abnormalities | 6/14 | 43% | 0/1 | 0% | 1.000 | NS |
| Renal abnormalities | 1/9 | 11% | – | – | – | – |
| Genitourinary tract abnormalities | 6/17 | 35% | 2/2 | 100% | 0.164 | NS |
NS, not significant.