| Growth parameters |
| Low birth weight |
7/23 |
30.4 |
2/12 |
16.7 |
9/35 |
25.7 |
| Postnatal short stature |
10/24 |
41.7 |
2/10 |
20.0 |
12/34 |
35.3 |
| Microcephaly |
1/25 |
4.0 |
0/10 |
0.0 |
1/35 |
2.9 |
| Macrocephaly |
3/25 |
12.0 |
2/10 |
20 |
5/35 |
14.3 |
| |
|
|
|
|
|
|
| Neurological features |
| Hypotonia |
28/32 |
87.5 |
10/12 |
83.3 |
38/44 |
86.4 |
| Feeding problems |
19/25 |
76.0 |
8/12 |
66.7 |
27/37 |
73.0 |
| DD/intellectual disability |
33/33 |
100.0 |
12/12 |
100.0 |
45/45 |
100.0 |
| Mild |
13/30 |
43.3 |
4/11 |
36.3 |
17/41 |
41.5 |
| Moderate |
11/30 |
36.7 |
4/11 |
36.3 |
15/41 |
36.6 |
| Severe |
6/30 |
20.0 |
3/11 |
27.2 |
9/41 |
22.0 |
| Motor delay |
25/25 |
100.0 |
11/12 |
91.7 |
36/37 |
97.3 |
| Speech delay |
24/24 |
100.0 |
12/12 |
100.0 |
36/36 |
100.0 |
| Seizures/EEG anomalies |
15/33 |
45.5 |
7/12 |
58.3 |
22/45 |
48.9 |
| Friendly/amiable affect |
26/30 |
88.7 |
11/12 |
91.7 |
37/42 |
88.7 |
| Structural CNS anomalies |
15/26 |
57.7 |
3/8 |
37.5 |
18/34 |
52.9 |
| Enlarged ventricles |
10/27 |
37.0 |
3/9 |
33.3 |
13/36 |
36.1 |
| |
|
|
|
|
|
|
| Neuropsychological disorders |
18/32 |
56.3 |
7/12 |
58.3 |
25/44 |
56.8 |
| |
|
|
|
|
|
|
| Dysmorphic features |
| Long face |
23/32 |
71.9 |
10/12 |
83.3 |
33/44 |
75.0 |
| Upslanting palpebral fissures |
16/33 |
48.5 |
8/11 |
72.7 |
24/44 |
54.5 |
| Narrow/short palpebral fissures |
14/24 |
58.3 |
5/10 |
50.0 |
19/34 |
55.0 |
| Ptosis |
12/33 |
36.4 |
2/11 |
18.1 |
14/44 |
31.8 |
| Epicanthal folds |
18/33 |
54.5 |
5/11 |
45.5 |
23/44 |
52.3 |
| Tubular or pear-shaped nose |
27/32 |
84.4 |
7/11 |
63.6 |
34/43 |
81.0 |
| Bulbous nasal tip |
29/32 |
90.6 |
9/11 |
81.8 |
38/43 |
88.3 |
| Everted lower lip |
15/24 |
66.7 |
9/11 |
81.8 |
25/35 |
71.4 |
| Large/prominent ears |
14/32 |
43.8 |
0/11 |
0.0 |
14/43 |
32.6 |
| |
|
|
|
|
|
|
| Musculoskeletal anomalies |
25/32 |
78.1 |
8/11 |
72.7 |
33/43 |
76.7 |
| Tracheo/laryngomalacia |
5/33 |
15.2 |
4/11 |
36.3 |
9/44 |
20.9 |
| Scoliosis/kyphosis |
13/33 |
39.4 |
4/12 |
33.3 |
17/45 |
37.8 |
| Joint hyperlaxity |
17/30 |
56.7 |
7/11 |
63.6 |
24/41 |
58.5 |
| Positional deformity feet |
12/31 |
38.7 |
8/11 |
72.7 |
20/42 |
47.6 |
| |
|
|
|
|
|
|
| Visual and hearing impairments |
16/29 |
55.2 |
8/9 |
72.7 |
24/38 |
63.2 |
| Hypermetropia |
10/31 |
32.3 |
6/11 |
54.5 |
16/42 |
38.0 |
| Strabismus |
12/33 |
36.4 |
6/11 |
54.5 |
18/44 |
40.9 |
| Hearing impairment |
9/28 |
32.1 |
1/12 |
8.3 |
10/40 |
25.0 |
| |
|
|
|
|
|
|
| Heart defects |
11/33 |
33.3 |
6/11 |
54.5 |
17/44 |
38.6 |
| |
|
|
|
|
|
|
| Renal and urogenital anomalies |
14/32 |
43.8 |
5/10 |
50.0 |
19/42 |
45.2 |
| Cryptorchidism |
7/14 |
50.0 |
3/5 |
60.0 |
10/19 |
52.6 |
| |
|
|
|
|
|
|
| Ectodermal abnormalities |
21/32 |
65.6 |
7/10 |
70.0 |
28/42 |
66.7 |
| Multiple moles |
5/33 |
15.2 |
3/11 |
27.3 |
8/44 |
18.2 |
