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Table 1 Comparison of our patients’ features to individuals reported with TCF4 mutations

From: Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

Feature Summary of reported patients [2729, 31, 4345, 4961] Our patients
No. reported with feature Total reported (n = 121) % No. with feature Total (n = 3)
Pitt Hopkins facial gestalt 109 114 96 0 3
 Deep set eyes 85 103 83   
 Protrusion of mid/lower face 96 105 91   
 Marked nasal root 90 105 86   
 Broad/beaked bridge 99 106 93   
 Flared nostrils 90 106 85   
 Large mouth 101 109 93   
 Tented upper lip 102 107 95   
 Everted lower lip 94 107 88   
Hands      
 Long fingers 26 46 57 1 3
 Single palmar crease 52 88 59 3 3
 Prominent finger pads 31 69 45 2 3
 Additional palmar creases 5 32 16 0 3
 Thumb ankylosis 10 68 15 0 3
Feet      
 Pes planus 15 25 60 1 1
 Pes cavus 4 22 18 0 1
 Overriding toes 15 38 39 0 1
 Talipes equivarus2 6 24 25 0 3
Genitalia      
 Abnormal 21 57 37 0 1
 Cryptorchidism 14 42 33 0 1
Spine      
 Scoliosis 15 79 19 0 3
Ophthalmological findings 73 104 70   
 Strabismus 65 113 58 0 3
 Myopia 43 86 50 2 3
Gastrointestinal findings 17 26 65 0 3
 Constipation 66 101 65   
 GER 8 44 18   
 Hirschsprung disease 1 74 1   
Growth findings     0 3
 Height < 2 SD 19 80 24   
 Weight < 2 SD 9 58 16   
 OFC < − 2 SD 17 65 26   
 OFC on −2 SD 13 49 27   
 Microcephaly 56 113 50   
Developmental findings      
 Severe ID or DD 117 119 98 0 3
 Hypotonia 69 80 86   
 Delayed walking 81 83 98 0 1
 Walking achieved 53 65 82 3 3
 Ataxic gait 44 68 65 0 3
 Absent language or <5 words 105 108 97 0 3
Movement anomalies 81 106 76 0 3
 Arm flapping 28 47 60   
 Hand biting/nibbling 17 38 45   
 Repetitive finger movements 12 25 48   
 Repetitive wrist movements 10 21 48   
 Hand wringing 11 24 46   
 Head stereotypies 11 26 42   
 Median line stereotypies 14 35 40   
Behavioral findings     0 3
 Smiling/happy 86 99 87   
 Harm to self 21 59 36   
 Harm to others 12 61 20   
 Sleep disturbances 15 63 24   
 Anxiety/agitation 29 49 59   
 Unmotivated laughing 19 30 63   
Breathing anomalies 72 116 62 0 3
 Hyperventilation 54 99 55   
 Apnoea 35 65 54   
 Cyanosis 11 36 31   
 Loss of consciousness 5 34 15   
 Chronic hypoxia 3 31 10   
 Finger clubbing 3 33 9   
Seizures (history) 44 113 39 0 3
Abnormal head MRI 59 95 62 0 1
 Hypoplasia or agenesis of cc 36 83 43   
 Ventriculomegaly 24 71 34   
 Abnormal myelination or reduced white matter 5 29 17   
 Cortical atrophy 6 37 16   
 Minor posterior  fossa anomalies 6 22 27   
 Dentate nuclei  hyperintensity 4 25 16   
 Small  hippocampi 11 41 27   
 Temporal lobe  hyperintensity 13 51 25   
 Frontal lobe  hypoplasia 3 30 10   
 Large caudate  nuclei 4 45 9   
Normal birth parameters 36 41 88 1 1