|
1
|
(HPO:0000037)
|
Male pseudohermaphroditism |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
2
|
(HPO:0000062)
|
Ambiguous genitalia |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
3
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
8
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
9
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
10
|
(HPO:0000912)
|
Sprengel anomaly |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
11
|
(HPO:0001601)
|
Laryngomalacia |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
12
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
13
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
|
14
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
15
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
16
|
(HPO:0002779)
|
Tracheomalacia |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
17
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
18
|
(HPO:0002823)
|
Abnormality of the femur |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
19
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
20
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
21
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
22
|
(HPO:0004408)
|
Abnormality of the sense of smell |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
|
23
|
(HPO:0005280)
|
Depressed nasal bridge |
Occasional [Orphanet]
|
|
|
|
381 / 7739
|
|
24
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
25
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
26
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
27
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
28
|
(HPO:0004599)
|
Absent or minimally ossified vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
29
|
(HPO:0000921)
|
Missing ribs |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
30
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
31
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
32
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
33
|
(HPO:0009115)
|
Aplasia/hypoplasia involving the skeleton |
Very frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
34
|
(HPO:0200040)
|
Epidermoid cyst |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
35
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
36
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
37
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
38
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
39
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
40
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
41
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
42
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
43
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
44
|
(HPO:0000274)
|
Small face |
|
|
|
|
18 / 7739
|
|
45
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
46
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
47
|
(HPO:0000457)
|
Depressed nasal ridge |
|
|
|
|
85 / 7739
|
|
48
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
49
|
(HPO:0000878)
|
11 pairs of ribs |
|
|
|
|
19 / 7739
|
|
50
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
|
51
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
|
52
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
53
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
54
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
55
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
|
56
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
57
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
58
|
(HPO:0002786)
|
Tracheobronchomalacia |
|
|
|
|
4 / 7739
|
|
59
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
60
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
|
61
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
62
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
|
63
|
(HPO:0005035)
|
Shortening of all phalanges of the toes |
|
|
|
|
1 / 7739
|
|
64
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
|
65
|
(HPO:0006390)
|
Anterior tibial bowing |
|
|
|
|
2 / 7739
|
|
66
|
(HPO:0006628)
|
Absent sternal ossification |
|
|
|
|
6 / 7739
|
|
67
|
(HPO:0008434)
|
Hypoplastic cervical vertebrae |
|
|
|
|
4 / 7739
|
|
68
|
(HPO:0008477)
|
Poorly ossified cervical vertebrae |
|
|
|
|
1 / 7739
|
|
69
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
70
|
(HPO:0008921)
|
Neonatal short-limb short stature |
|
|
|
|
12 / 7739
|
|
71
|
(HPO:0011910)
|
Shortening of all phalanges of fingers |
|
|
|
|
2 / 7739
|
|
72
|
(HPO:0012245)
|
Sex reversal |
|
|
|
|
13 / 7739
|
|
73
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|
|
74
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|