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

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