1 |
delayed closure of the anterior fontanelle
58
30
|
Obligate (100%) |
Obligate (100%)
|
HP:0001476
|
2 |
failure to thrive
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0001508
|
3 |
high palate
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0000218
|
4 |
global developmental delay
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0001263
|
5 |
hypertelorism
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0000316
|
6 |
carious teeth
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0000670
|
7 |
delayed speech and language development
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0000750
|
8 |
short nose
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0003196
|
9 |
smooth philtrum
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0000319
|
10 |
coarse hair
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0002208
|
11 |
short stature
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0004322
|
12 |
decreased muscle mass
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0003199
|
13 |
intrauterine growth retardation
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0001511
|
14 |
postnatal growth retardation
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0008897
|
15 |
low-set ears
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0000369
|
16 |
lipodystrophy
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0009125
|
17 |
motor delay
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0001270
|
18 |
downslanted palpebral fissures
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0000494
|
19 |
long philtrum
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0000343
|
20 |
malar flattening
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0000272
|
21 |
sparse hair
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0008070
|
22 |
feeding difficulties
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0011968
|
23 |
thick hair
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0100874
|
24 |
intellectual disability, profound
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0002187
|
25 |
abnormal subcutaneous fat tissue distribution
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0007552
|
26 |
dementia
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0000726
|
27 |
broad nasal tip
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0000455
|
28 |
excessive wrinkled skin
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0007392
|
29 |
high myopia
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0011003
|
30 |
redundant neck skin
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0005989
|
31 |
poor speech
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0002465
|
32 |
generalized joint laxity
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0002761
|
33 |
fragmented elastic fibers in the dermis
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0025167
|
34 |
infantile muscular hypotonia
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0008947
|
35 |
psychomotor deterioration
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0002361
|
36 |
prominent veins on trunk
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0007457
|
37 |
progressive microcephaly
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0000253
|
38 |
prominent nasolabial fold
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0005272
|
39 |
abnormal isoelectric focusing of serum transferrin
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0003160
|
40 |
thick cerebral cortex
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0006891
|
41 |
seizure
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001250
|
42 |
spasticity
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001257
|
43 |
inguinal hernia
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0000023
|
44 |
strabismus
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0000486
|
45 |
congenital hip dislocation
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001374
|
46 |
dandy-walker malformation
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001305
|
47 |
subretinal pigment epithelium hemorrhage
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0025244
|
48 |
polymicrogyria
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002126
|
49 |
pachygyria
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001302
|
50 |
abnormal circulating apolipoprotein concentration
30
|
Frequent (33%) |
|
HP:0025201
|