body region |
signs and symptoms
|
2p-cen-near
[%]
|
2q-cen-near
[%]
|
colon |
situs
inversus |
0 |
6 |
feet |
club
foot |
0 |
6 |
gentalia
(male) |
cryptorchidism
(male) |
0 |
6 |
growth |
growth
retardation (prenatal and/or postnatal) |
33 |
24 |
hands |
hands
in flexion |
0 |
6 |
head
- eyes |
blepharophimosis
/ ptosis |
0 |
6 |
head
- face |
cleft
palate |
0 |
24 |
|
epicanthus |
0 |
6 |
|
facial
dysmorphism (no details given, or others than
listed; i.e. unspecific ones) |
33 |
65 |
|
hypertelorism
and / or telecanthus |
0 |
6 |
|
nose
long and/or bulbous |
0 |
6 |
|
retrognathia |
0 |
6 |
head
- skull/ brain |
microcephaly |
0 |
18 |
|
skull
- other malformations |
0 |
6 |
|
ventriculomegaly |
0 |
6 |
heart |
artrial
septal defect (ASD) |
0 |
6 |
|
ventricular
septal defect (VSD) |
0 |
12 |
kidney |
duplication |
0 |
6 |
|
problems/
malformations |
33 |
6 |
mental |
attention
deficit disorder |
33 |
6 |
|
autism |
0 |
12 |
|
developmental
delay |
67 |
35 |
|
mental
retardation |
67 |
24 |
|
no
speech |
33 |
6 |
muscles |
hypotonia |
0 |
12 |
neuronal |
seizures |
0 |
12 |
prenatal |
omphalocoele |
0 |
6 |
|
pregnancy
loss or termination of pregnance |
0 |
12 |
skin |
hyperpigmentation
/ streaky pigmentation |
33 |
0 |
|
|
|
|
|
cases included |
3 |
17 |