|
1
|
(HPO:0000912)
|
Sprengel anomaly |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
2
|
(HPO:0000262)
|
Turricephaly |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
3
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
4
|
(HPO:0002536)
|
Abnormal cortical gyration |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
5
|
(HPO:0000921)
|
Missing ribs |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
6
|
(HPO:0011675)
|
Arrhythmia |
Very frequent [Orphanet]
|
|
|
|
226 / 7739
|
|
7
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
8
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
9
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0001695)
|
Cardiac arrest |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
12
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
13
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
|
14
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
15
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
16
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
17
|
(HPO:0005616)
|
Accelerated skeletal maturation |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
18
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
19
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
20
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
21
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
22
|
(HPO:0000878)
|
11 pairs of ribs |
|
|
|
|
19 / 7739
|
|
23
|
(HPO:0000887)
|
Cupped ribs |
|
|
|
|
9 / 7739
|
|
24
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
25
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
26
|
(HPO:0001582)
|
Redundant skin |
|
|
|
|
51 / 7739
|
|
27
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
28
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
29
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
30
|
(HPO:0002132)
|
Porencephaly |
|
|
|
|
18 / 7739
|
|
31
|
(HPO:0002657)
|
Spondylometaphyseal dysplasia |
|
|
|
|
12 / 7739
|
|
32
|
(HPO:0002663)
|
Delayed epiphyseal ossification |
|
|
|
|
21 / 7739
|
|
33
|
(HPO:0002869)
|
Flared iliac wings |
|
|
|
|
20 / 7739
|
|
34
|
(HPO:0003021)
|
Metaphyseal cupping |
|
|
|
|
16 / 7739
|
|
35
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
36
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
37
|
(HPO:0003085)
|
Long fibula |
|
|
|
|
5 / 7739
|
|
38
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
39
|
(HPO:0003375)
|
Narrow greater sacrosciatic notches |
|
|
|
|
13 / 7739
|
|
40
|
(HPO:0004491)
|
Large posterior fontanelle |
|
|
|
|
3 / 7739
|
|
41
|
(HPO:0004688)
|
Irregular tarsal bones |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
43
|
(HPO:0006059)
|
Cone-shaped metacarpal epiphyses |
|
|
|
|
3 / 7739
|
|
44
|
(HPO:0007187)
|
Focal lissencephaly |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0008786)
|
Iliac crest serration |
|
|
|
|
4 / 7739
|
|
46
|
(HPO:0008798)
|
Widened sacrosciatic notch |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
48
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
|
49
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
|
50
|
(OMIM)
|
Birth weight normal |
|
|
|
|
14 / 7739
|
|
51
|
(OMIM)
|
Subacute myocarditis |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Small, narrow chest |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Irregular scapulae |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Disproportionately small occipital bone |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Medial and lateral spur |
|
|
|
|
2 / 7739
|
|
56
|
(OMIM)
|
Wide sacrosciatic notch |
|
|
|
|
2 / 7739
|
|
57
|
(OMIM)
|
Irregular ossified ischia |
|
|
|
|
1 / 7739
|
|
58
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
59
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
60
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
61
|
(HPO:0011025)
|
Abnormality of cardiovascular system physiology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
62
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
63
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
64
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
65
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
66
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
67
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|