1
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
2
|
(HPO:0000280)
|
Coarse facial features |
Frequent [Orphanet]
|
|
|
|
189 / 7739
|
3
|
(HPO:0000340)
|
Sloping forehead |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
4
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
5
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
6
|
(HPO:0000768)
|
Pectus carinatum |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
7
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
8
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
9
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
10
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
11
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
12
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
13
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
14
|
(HPO:0002857)
|
Genu valgum |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
15
|
(HPO:0003019)
|
Abnormality of the wrist |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
16
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
17
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
18
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
19
|
(HPO:0003416)
|
Spinal canal stenosis |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
20
|
(HPO:0003834)
|
Shoulder dislocation |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
21
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
22
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
23
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
24
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
25
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
26
|
(HPO:0000752)
|
Hyperactivity |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
27
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
28
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
29
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
30
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
32
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
33
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
34
|
(HPO:0000884)
|
Prominent sternum |
|
|
|
|
11 / 7739
|
35
|
(HPO:0000911)
|
Flat glenoid fossa |
|
|
|
|
4 / 7739
|
36
|
(HPO:0000914)
|
Shield chest |
|
|
|
|
14 / 7739
|
37
|
(HPO:0000920)
|
Enlargement of the costochondral junction |
|
|
|
|
11 / 7739
|
38
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
39
|
(HPO:0001498)
|
Carpal bone hypoplasia |
|
|
|
|
17 / 7739
|
40
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
41
|
(HPO:0001769)
|
Broad foot |
|
|
|
|
31 / 7739
|
42
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
43
|
(HPO:0002681)
|
Deformed sella turcica |
|
|
|
|
4 / 7739
|
44
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
45
|
(HPO:0002692)
|
Hypoplastic facial bones |
|
|
|
|
5 / 7739
|
46
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
47
|
(HPO:0002942)
|
Thoracic kyphosis |
|
|
|
|
14 / 7739
|
48
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
49
|
(HPO:0003183)
|
Wide pubic symphysis |
|
|
|
|
5 / 7739
|
50
|
(HPO:0003375)
|
Narrow greater sacrosciatic notches |
|
|
|
|
13 / 7739
|
51
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
52
|
(HPO:0004568)
|
Beaking of vertebral bodies |
|
|
|
|
19 / 7739
|
53
|
(HPO:0004997)
|
Multicentric ossification of proximal humeral epiphyses |
|
|
|
|
2 / 7739
|
54
|
(HPO:0006450)
|
Multicentric ossification of proximal femoral epiphyses |
|
|
|
|
2 / 7739
|
55
|
(HPO:0008786)
|
Iliac crest serration |
|
|
|
|
4 / 7739
|
56
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
57
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
58
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
59
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
60
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
61
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|