|
1
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
2
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
3
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0001602)
|
Laryngeal stenosis |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
6
|
(HPO:0000767)
|
Pectus excavatum |
Very frequent [Orphanet]
|
|
|
|
244 / 7739
|
|
7
|
(HPO:0000592)
|
Blue sclerae |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
8
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
9
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
10
|
(HPO:0009553)
|
Abnormality of the hairline |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
12
|
(HPO:0002092)
|
Pulmonary hypertension |
Very frequent [Orphanet]
|
|
|
|
109 / 7739
|
|
13
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
14
|
(HPO:0000921)
|
Missing ribs |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
15
|
(HPO:0005988)
|
Congenital muscular torticollis |
Frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
16
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
17
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0002206)
|
Pulmonary fibrosis |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
20
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
21
|
(HPO:0000601)
|
Hypotelorism |
Frequent [Orphanet]
|
|
|
|
83 / 7739
|
|
22
|
(HPO:0000122)
|
Unilateral renal agenesis |
|
|
|
|
24 / 7739
|
|
23
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
24
|
(HPO:0000772)
|
Abnormality of the ribs |
|
|
|
|
146 / 7739
|
|
25
|
(HPO:0000913)
|
Posterior rib fusion |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
|
|
89 / 7739
|
|
27
|
(HPO:0001600)
|
Abnormality of the larynx |
|
|
|
|
15 / 7739
|
|
28
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
29
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
30
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
31
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
|
32
|
(HPO:0004404)
|
Abnormality of the nipple |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
33
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
34
|
(MedDRA:10023871)
|
Laryngeal web |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Absence of several ribs |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
|
37
|
(OMIM)
|
Elbow dimples |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Posterior parietal hair whorls |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
40
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
41
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
42
|
(HPO:0008544)
|
Abnormally folded helix |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
43
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0005950)
|
Laryngeal web |
|
|
|
|
5 / 7739
|