Table 2 Summary of the clinical presentation of patients with DYRK1A mutations

Age at last reported assessment

22 months

13 years

21 month - 59 years

17 months - 33 years

IUGR / prenatal findings

IUGR, enlarged cisterna magna

-

17 / 26

15 / 16

33 / 43

Head circumference at birth (<-2 SD)

- 2.5 SD

13 / 22

15 / 16

29 / 39

Low birth weight (<-2 SD)

- 2.5 SD

-

13 / 27

14 / 19

28 / 47

Length at birth (<-2 SD)

-

-

12 / 21

12 / 15

24 / 36

Feeding difficulties

+

+

28 / 30

14 / 14

44 / 46

Microcephaly (<-2 SD)

- 4.6 SD

- 1.3 SD

26 / 31

17 / 18

44 / 51

Weight (<-2 SD)

- 3.3 SD

+1.7 SD

7 / 26

12 / 17

20 / 45

Height (<-2 SD)

- 2.2 SD

+2 SD

7 / 28

12 / 18

20 / 48

Global developmental delay

+

+

33 / 33

18 / 18

53 / 53

Intellectual disability

+

31 / 32

19 / 19

51 / 52

Speech delay / absence

+

+

32 / 32

17 / 17

51 / 51

Motor delay / late walking

+

+

22 / 22

11 / 12

35 / 36

Abnormal gait

+

18 / 20

7 / 9

26 / 30

Behavioral issues

-

+

29 / 31

9 / 11

39 / 44

Stereotypies

-

+

20 / 25

6 / 9

27 / 36

Autism spectrum disorder

-

14 / 27

2 / 7

16 / 35

Anxiety

-

+

9 / 18

1 / 5

11 / 24

Hyperactivity / ADHD

-

-

5 / 21

3 / 7

8 / 30

Febrile seizures

-

+

17 / 29

13 / 15

31 / 46

Seizures / epilepsy

-

+

14 / 28

13 / 17

28 / 47

Brain abnormalities (MRI)

+

Normal

18 / 24

13 / 16

32 / 42

Enlarged ventricles

+

10

4

22^a

General / cortical atrophy

+

8

6

17^a

Thin brainstem

-

2

2

13^a

Hypoplastic corpus callosum

-

2

4

9^a

Optic disk/nerve anomaly

Optic disc pallor

-

5

1

7

Vision abnormalities

Visual impairment

-

16 / 21

8 / 9

25 / 32

Dysmorphic facies

+

+

32 / 33

19 / 19

53 / 54

Abnormalities of the hands or feet

Small feet, toe brachydactyly, proximal placement of first toes

Tapering fingers, high arched feet

15 / 16

8 / 10

25 / 28

Abnormalities of the spine or chest

-

Mild pectus excavatum

6 / 8

4 / 7

11 / 17

Contractures

Bilateral: third and fifth digits, ankles

-

3 / -

1 / -

5 / -

Gastrointestinal symptoms

GERD, vomiting

-

13 / -

3 / -

17 / -

Genitourinary

Bilateral hydronephrosis

-

5 / -

3 / -

9 / -

Cardiac

PDA

-

2 / -

5 / -

8 / -

Recurrent infections

+

-

7 / -

3 / -

11 / -