1 |
muscular hypotonia
59
32
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0001252
|
2 |
developmental regression
59
32
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0002376
|
3 |
depressed nasal bridge
59
32
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0005280
|
4 |
microcephaly
59
32
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000252
|
5 |
stereotypy
59
32
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000733
|
6 |
intellectual disability, severe
59
32
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0010864
|
7 |
protruding ear
59
32
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000411
|
8 |
tented upper lip vermilion
59
32
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0010804
|
9 |
feeding difficulties
59
32
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0011968
|
10 |
epicanthus
59
32
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000286
|
11 |
everted lower lip vermilion
59
32
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000232
|
12 |
absent speech
59
32
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0001344
|
13 |
growth delay
59
32
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0001510
|
14 |
abnormality of the antihelix
59
32
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0009738
|
15 |
bulbous nose
59
32
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000414
|
16 |
agenesis of corpus callosum
59
32
|
frequent (33%) |
Frequent (79-30%) |
HP:0001274
|
17 |
seizures
59
32
|
frequent (33%) |
Frequent (79-30%) |
HP:0001250
|
18 |
scoliosis
59
32
|
frequent (33%) |
Frequent (79-30%) |
HP:0002650
|
19 |
kyphosis
59
32
|
frequent (33%) |
Frequent (79-30%) |
HP:0002808
|
20 |
macroglossia
59
32
|
frequent (33%) |
Frequent (79-30%) |
HP:0000158
|
21 |
mandibular prognathia
59
32
|
frequent (33%) |
Frequent (79-30%) |
HP:0000303
|
22 |
short nose
59
32
|
frequent (33%) |
Frequent (79-30%) |
HP:0003196
|
23 |
smooth philtrum
59
32
|
frequent (33%) |
Frequent (79-30%) |
HP:0000319
|
24 |
gastroesophageal reflux
59
32
|
frequent (33%) |
Frequent (79-30%) |
HP:0002020
|
25 |
palpebral edema
59
32
|
frequent (33%) |
Frequent (79-30%) |
HP:0100540
|
26 |
downslanted palpebral fissures
59
32
|
frequent (33%) |
Frequent (79-30%) |
HP:0000494
|
27 |
blepharophimosis
59
32
|
frequent (33%) |
Frequent (79-30%) |
HP:0000581
|
28 |
prominent metopic ridge
59
32
|
frequent (33%) |
Frequent (79-30%) |
HP:0005487
|
29 |
excessive salivation
59
32
|
frequent (33%) |
Frequent (79-30%) |
HP:0003781
|