|
1
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000288)
|
Abnormality of the philtrum |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
|
|
185 / 7739
|
|
6
|
(HPO:0000954)
|
Single transverse palmar crease |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
7
|
(HPO:0000995)
|
Melanocytic nevus |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
8
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
9
|
(HPO:0001622)
|
Premature birth |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
10
|
(HPO:0001643)
|
Patent ductus arteriosus |
Very frequent [Orphanet]
|
|
|
|
228 / 7739
|
|
11
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
12
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
13
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
14
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0005487)
|
Prominent metopic ridge |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
17
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
18
|
(HPO:0010293)
|
Aplasia/Hypoplasia of the uvula |
Very frequent [Orphanet]
|
|
|
|
3 / 7739
|
|
19
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
20
|
(HPO:0004760)
|
Congenital septal defect |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
21
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
22
|
(HPO:0200055)
|
Small hand |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
23
|
(HPO:0001197)
|
Abnormality of prenatal development or birth |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
24
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
25
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
26
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
27
|
(HPO:0040064)
|
Abnormality of limbs |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
28
|
(HPO:0002817)
|
Abnormality of the upper limb |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
29
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
30
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
31
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
32
|
(HPO:0001167)
|
Abnormality of finger |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
33
|
(HPO:0009466)
|
Radial deviation of finger |
Very frequent [Orphanet]
|
|
|
|
101 / 7739
|