1 |
depressed nasal bridge
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0005280
|
2 |
muscular hypotonia
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0001252
|
3 |
microcephaly
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000252
|
4 |
developmental regression
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0002376
|
5 |
stereotypy
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000733
|
6 |
intellectual disability, severe
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0010864
|
7 |
feeding difficulties
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0011968
|
8 |
everted lower lip vermilion
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000232
|
9 |
absent speech
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0001344
|
10 |
growth delay
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0001510
|
11 |
epicanthus
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000286
|
12 |
protruding ear
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000411
|
13 |
bulbous nose
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000414
|
14 |
tented upper lip vermilion
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0010804
|
15 |
abnormality of the antihelix
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0009738
|
16 |
macroglossia
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0000158
|
17 |
scoliosis
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0002650
|
18 |
kyphosis
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0002808
|
19 |
mandibular prognathia
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0000303
|
20 |
short nose
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0003196
|
21 |
smooth philtrum
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0000319
|
22 |
gastroesophageal reflux
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0002020
|
23 |
palpebral edema
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0100540
|
24 |
downslanted palpebral fissures
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0000494
|
25 |
blepharophimosis
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0000581
|
26 |
agenesis of corpus callosum
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0001274
|
27 |
prominent metopic ridge
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0005487
|
28 |
excessive salivation
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0003781
|
29 |
seizure
31
|
frequent (33%) |
|
HP:0001250
|
30 |
seizures
58
|
|
Frequent (79-30%) |
|