|
1
|
(HPO:0000246)
|
Sinusitis |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000274)
|
Small face |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000340)
|
Sloping forehead |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
6
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
7
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
8
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
9
|
(HPO:0000689)
|
Dental malocclusion |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
10
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
11
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
12
|
(HPO:0001172)
|
Abnormality of the thumb |
Occasional [Orphanet]
|
|
|
|
103 / 7739
|
|
13
|
(HPO:0001182)
|
Tapered finger |
Occasional [Orphanet]
|
|
|
|
93 / 7739
|
|
14
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
15
|
(HPO:0002104)
|
Apnea |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
16
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
17
|
(HPO:0002645)
|
Wormian bones |
Very frequent [Orphanet]
|
|
|
|
65 / 7739
|
|
18
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
19
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
20
|
(HPO:0002857)
|
Genu valgum |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
|
21
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
22
|
(HPO:0004331)
|
Decreased skull ossification |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
23
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
24
|
(HPO:0005107)
|
Abnormality of the sacrum |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
25
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
26
|
(HPO:0011069)
|
Increased number of teeth |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
27
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
28
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
29
|
(HPO:0000248)
|
Brachycephaly |
Occasional [Orphanet]
|
|
|
|
222 / 7739
|
|
30
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
31
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Occasional [Orphanet]
|
|
|
|
110 / 7739
|
|
32
|
(HPO:0000389)
|
Chronic otitis media |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
33
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
34
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
35
|
(HPO:0000598)
|
Abnormality of the ear |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
36
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
|
37
|
(HPO:0011442)
|
Abnormality of central motor function |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
|
38
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
39
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
40
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
41
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
|
42
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
43
|
(HPO:0000242)
|
Parietal bossing |
|
|
|
|
11 / 7739
|
|
44
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
45
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
46
|
(HPO:0000680)
|
Delayed eruption of primary teeth |
|
|
|
|
10 / 7739
|
|
47
|
(HPO:0000696)
|
Delayed eruption of permanent teeth |
|
|
|
|
12 / 7739
|
|
48
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
49
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
|
50
|
(HPO:0000891)
|
Cervical ribs |
|
|
|
|
8 / 7739
|
|
51
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
|
52
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
53
|
(HPO:0002643)
|
Neonatal respiratory distress |
|
|
|
|
22 / 7739
|
|
54
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
|
55
|
(HPO:0002688)
|
Absent frontal sinuses |
|
|
|
|
12 / 7739
|
|
56
|
(HPO:0002689)
|
Absent paranasal sinuses |
|
|
|
|
4 / 7739
|
|
57
|
(HPO:0002700)
|
Large foramen magnum |
|
|
|
|
6 / 7739
|
|
58
|
(HPO:0002738)
|
Hypoplastic frontal sinuses |
|
|
|
|
6 / 7739
|
|
59
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
60
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
61
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
|
62
|
(HPO:0003183)
|
Wide pubic symphysis |
|
|
|
|
5 / 7739
|
|
63
|
(HPO:0003302)
|
Spondylolisthesis |
|
|
|
|
14 / 7739
|
|
64
|
(HPO:0003304)
|
Spondylolysis |
|
|
|
|
11 / 7739
|
|
65
|
(HPO:0003396)
|
Syringomyelia |
|
|
|
|
16 / 7739
|
|
66
|
(HPO:0004220)
|
Short middle phalanx of the 5th finger |
|
|
|
|
17 / 7739
|
|
67
|
(HPO:0004474)
|
Persistent open anterior fontanelle |
|
|
|
|
4 / 7739
|
|
68
|
(HPO:0005259)
|
Abnormal facility in opposing the shoulders |
|
|
|
|
2 / 7739
|
|
69
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
70
|
(HPO:0006040)
|
Long second metacarpal |
|
|
|
|
2 / 7739
|
|
71
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
72
|
(HPO:0008788)
|
Delayed pubic bone ossification |
|
|
|
|
5 / 7739
|
|
73
|
(HPO:0008848)
|
Moderately short stature |
|
|
|
|
6 / 7739
|
|
74
|
(HPO:0009577)
|
Short middle phalanx of the 2nd finger |
|
|
|
|
4 / 7739
|
|
75
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
|
76
|
(HPO:0011001)
|
Increased bone mineral density |
|
|
|
|
78 / 7739
|
|
77
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
78
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|