1
|
(HPO:0000602)
|
Ophthalmoplegia |
Very frequent [IBIS]
|
|
25305018
|
IBIS
|
56 / 7739
|
2
|
(HPO:0000508)
|
Ptosis |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
19571066
|
IBIS
|
459 / 7739
|
3
|
(HPO:0002091)
|
Restrictive ventilatory defect |
Very frequent [IBIS]
|
|
25305018
|
IBIS
|
46 / 7739
|
4
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
Very frequent [IBIS]
|
|
19571066
|
IBIS
|
93 / 7739
|
5
|
(HPO:0005684)
|
Distal arthrogryposis |
Very frequent [IBIS]
|
|
19571066
|
IBIS
|
31 / 7739
|
6
|
(HPO:0000315)
|
Abnormality of the orbital region |
Very frequent [IBIS]
|
|
19571066
|
IBIS
|
18 / 7739
|
7
|
(HPO:0007941)
|
Limited extraocular movements |
Very frequent [IBIS]
|
|
19571066
|
IBIS
|
7 / 7739
|
8
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [IBIS]
Frequent [Orphanet]
|
|
19571066
|
IBIS
|
309 / 7739
|
9
|
(HPO:0000486)
|
Strabismus |
Frequent [IBIS]
|
|
19571066
|
IBIS
|
576 / 7739
|
10
|
(HPO:0001848)
|
Calcaneovalgus deformity |
Frequent [IBIS]
|
|
19571066
|
IBIS
|
12 / 7739
|
11
|
(HPO:0001838)
|
Rocker bottom foot |
Frequent [IBIS]
|
|
19571066
|
IBIS
|
85 / 7739
|
12
|
(HPO:0001840)
|
Metatarsus adductus |
Frequent [IBIS]
|
|
19571066
|
IBIS
|
49 / 7739
|
13
|
(HPO:0000490)
|
Deeply set eye |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
14
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
24726473
|
IBIS
|
322 / 7739
|
15
|
(HPO:0010751)
|
Chin dimple |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
16
|
(HPO:0000597)
|
Ophthalmoparesis |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
17
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
18
|
(HPO:0000505)
|
Visual impairment |
Frequent [Orphanet]
|
|
|
|
297 / 7739
|
19
|
(HPO:0000767)
|
Pectus excavatum |
Very frequent [Orphanet]
|
|
|
|
244 / 7739
|
20
|
(HPO:0010489)
|
Absent palmar crease |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
21
|
(HPO:0000512)
|
Abnormal electroretinogram |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
22
|
(HPO:0000325)
|
Triangular face |
Frequent [Orphanet]
|
|
|
|
91 / 7739
|
23
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
24
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
25
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
26
|
(HPO:0000483)
|
Astigmatism |
|
|
|
|
67 / 7739
|
27
|
(HPO:0000540)
|
Hypermetropia |
rare [HPO:skoehler]
|
|
|
|
99 / 7739
|
28
|
(HPO:0000563)
|
Keratoconus |
|
|
|
|
25 / 7739
|
29
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
30
|
(HPO:0001119)
|
Keratoglobus |
|
|
|
|
4 / 7739
|
31
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
32
|
(HPO:0100807)
|
Long fingers |
|
|
|
|
23 / 7739
|
33
|
(HPO:0001547)
|
Abnormality of the rib cage |
|
|
|
|
25 / 7739
|
34
|
(HPO:0001776)
|
Bilateral talipes equinovarus |
|
|
|
|
8 / 7739
|
35
|
(HPO:0002650)
|
Scoliosis |
rare [HPO:skoehler]
|
|
24726473
|
IBIS
|
705 / 7739
|
36
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
37
|
(HPO:0003725)
|
Firm muscles |
|
|
|
|
3 / 7739
|
38
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
39
|
(HPO:0004322)
|
Short stature |
|
|
24726473
|
IBIS
|
1232 / 7739
|
40
|
(HPO:0004673)
|
Decreased facial expression |
|
|
|
|
5 / 7739
|
41
|
(HPO:0005879)
|
Congenital finger flexion contractures |
|
|
|
|
3 / 7739
|
42
|
(HPO:0006109)
|
Absent phalangeal crease |
|
|
|
|
4 / 7739
|
43
|
(HPO:0006184)
|
Decreased palmar creases |
|
|
|
|
5 / 7739
|
44
|
(HPO:0006251)
|
Limited wrist extension |
|
|
|
|
1 / 7739
|
45
|
(HPO:0007703)
|
Abnormality of retinal pigmentation |
|
|
|
|
21 / 7739
|
46
|
(HPO:0009921)
|
Duane anomaly |
|
|
|
|
9 / 7739
|
47
|
(OMIM)
|
Macular retinal folds |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Hunched, anteverted shoulders |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Spine stiffness |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Limited forearm rotation |
|
|
|
|
1 / 7739
|
51
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
52
|
(OMIM)
|
Bilateral club feet |
|
|
|
|
2 / 7739
|
53
|
(OMIM)
|
Dimples over large joints |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
55
|
(HPO:0009466)
|
Radial deviation of finger |
Frequent [Orphanet]
|
|
|
|
101 / 7739
|
56
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
57
|
(HPO:0001167)
|
Abnormality of finger |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
58
|
(HPO:0400004)
|
Long ear |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
59
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|
60
|
(HPO:0003394)
|
Muscle cramps |
|
|
19571066
|
IBIS
|
106 / 7739
|
61
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
19571066
|
IBIS
|
109 / 7739
|
62
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
19571066
|
IBIS
|
64 / 7739
|
63
|
(HPO:0000347)
|
Micrognathia |
|
|
24726473
|
IBIS
|
426 / 7739
|
64
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
24726473
|
IBIS
|
79 / 7739
|
65
|
(HPO:0002693)
|
Abnormality of the skull base |
|
|
24726473
|
IBIS
|
2 / 7739
|