|
1
|
(HPO:0000490)
|
Deeply set eye |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
2
|
(HPO:0004437)
|
Cranial hyperostosis |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
3
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
4
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
5
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
6
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
7
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
8
|
(HPO:0000615)
|
Abnormality of the pupil |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
9
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
10
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0000037)
|
Male pseudohermaphroditism |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
12
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
13
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
14
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
17
|
(HPO:0007676)
|
Hypoplasia of the iris |
|
|
|
|
22 / 7739
|
|
18
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
19
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
20
|
(HPO:0001591)
|
Bell-shaped thorax |
|
|
|
|
35 / 7739
|
|
21
|
(HPO:0005621)
|
Trapezoidal shaped vertebral bodies |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
23
|
(OMIM)
|
Abnormal clavicles |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Short metacarpals and phalanges |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000943)
|
Dysostosis multiplex |
|
|
|
|
22 / 7739
|
|
26
|
(HPO:0002652)
|
Skeletal dysplasia |
|
|
|
|
113 / 7739
|
|
27
|
(HPO:0005701)
|
Multiple enchondromatosis |
|
|
|
|
11 / 7739
|
|
28
|
(HPO:0010885)
|
Aseptic necrosis |
|
|
|
|
24 / 7739
|
|
29
|
(OMIM)
|
46,XY karyotype |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Optic disc coloboma |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Severe antenatal dwarfism |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
34
|
(HPO:0001167)
|
Abnormality of finger |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
35
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
36
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
37
|
(HPO:0000479)
|
Abnormality of the retina |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
38
|
(HPO:0000889)
|
Abnormality of the clavicle |
|
|
|
|
3 / 7739
|