1 |
strabismus
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0000486
|
2 |
specific learning disability
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0001328
|
3 |
recurrent fractures
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0002757
|
4 |
osteomyelitis
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0002754
|
5 |
keratitis
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0000491
|
6 |
severe global developmental delay
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0011344
|
7 |
self-mutilation
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0000742
|
8 |
pain insensitivity
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0007021
|
9 |
decreased corneal reflex
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0008000
|
10 |
delayed cns myelination
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0002188
|
11 |
impaired tactile sensation
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0010830
|
12 |
micrognathia
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000347
|
13 |
facial asymmetry
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000324
|
14 |
corneal erosion
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0200020
|
15 |
oligohydramnios
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0001562
|
16 |
rocker bottom foot
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0001838
|
17 |
prominent nose
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000448
|
18 |
small for gestational age
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0001518
|
19 |
limb undergrowth
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0009826
|
20 |
short palpebral fissure
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0012745
|
21 |
tibial bowing
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0002982
|
22 |
talipes equinovalgus
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0001772
|
23 |
congenital bilateral hip dislocation
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0008780
|
24 |
multifocal epileptiform discharges
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0010841
|
25 |
infantile muscular hypotonia
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0008947
|
26 |
nasogastric tube feeding in infancy
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0011470
|
27 |
seesaw nystagmus
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0012044
|
28 |
bilateral tonic-clonic seizure
31
|
occasional (7.5%) |
|
HP:0002069
|
29 |
abnormal facial shape
58
|
|
Occasional (29-5%) |
|
30 |
generalized tonic-clonic seizures
58
|
|
Occasional (29-5%) |
|