1 |
delayed speech and language development
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000750
|
2 |
intellectual disability, severe
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0010864
|
3 |
severe global developmental delay
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0011344
|
4 |
hypotonia
31
|
hallmark (90%) |
|
HP:0001252
|
5 |
frontal bossing
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0002007
|
6 |
short neck
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0000470
|
7 |
depressed nasal bridge
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0005280
|
8 |
hypertelorism
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0000316
|
9 |
full cheeks
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0000293
|
10 |
low-set ears
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0000369
|
11 |
short philtrum
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0000322
|
12 |
broad forehead
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0000337
|
13 |
micromelia
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0002983
|
14 |
small hand
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0200055
|
15 |
short foot
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0001773
|
16 |
short palm
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0004279
|
17 |
agenesis of corpus callosum
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0001274
|
18 |
sleep disturbance
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0002360
|
19 |
scoliosis
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0002650
|
20 |
ptosis
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000508
|
21 |
tremor
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0001337
|
22 |
kyphosis
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0002808
|
23 |
self-injurious behavior
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0100716
|
24 |
hearing impairment
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000365
|
25 |
abnormality of the dentition
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000164
|
26 |
stereotypy
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000733
|
27 |
strabismus
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000486
|
28 |
autism
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000717
|
29 |
intrauterine growth retardation
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0001511
|
30 |
downturned corners of mouth
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0002714
|
31 |
ventriculomegaly
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0002119
|
32 |
generalized hirsutism
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0002230
|
33 |
high forehead
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000348
|
34 |
large fontanelles
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000239
|
35 |
thin vermilion border
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000233
|
36 |
toe syndactyly
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0001770
|
37 |
synophrys
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000664
|
38 |
cerebellar hypoplasia
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0001321
|
39 |
long eyelashes
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000527
|
40 |
seizure
31
|
occasional (7.5%) |
|
HP:0001250
|
41 |
global developmental delay
58
31
|
|
Very frequent (99-80%) |
HP:0001263
|
42 |
seizures
58
|
|
Occasional (29-5%) |
|
43 |
muscular hypotonia
58
|
|
Very frequent (99-80%) |
|
44 |
growth delay
58
|
|
Very frequent (99-80%) |
|
45 |
postnatal growth retardation
31
|
|
|
HP:0008897
|
46 |
psychomotor retardation
31
|
|
|
HP:0025356
|
47 |
generalized hypotonia
31
|
|
|
HP:0001290
|
48 |
cerebral hypoplasia
31
|
|
|
HP:0006872
|