|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0009700)
|
Finger symphalangism |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
4
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
|
5
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
|
6
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
7
|
(HPO:0000303)
|
Mandibular prognathia |
Occasional [Orphanet]
|
|
|
|
179 / 7739
|
|
8
|
(HPO:0000211)
|
Trismus |
|
|
|
|
9 / 7739
|
|
9
|
(HPO:0000256)
|
Macrocephaly |
rare [HPO:skoehler]
|
|
|
|
298 / 7739
|
|
10
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
11
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
12
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
13
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
14
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
15
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
16
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
|
17
|
(HPO:0002002)
|
Deep philtrum |
rare [HPO:skoehler]
|
|
|
|
42 / 7739
|
|
18
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
19
|
(HPO:0003011)
|
Abnormality of the musculature |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
20
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
|
21
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
22
|
(OMIM)
|
Facial asymmetry, mild |
|
|
|
|
5 / 7739
|
|
23
|
(OMIM)
|
Long chin (rare) |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Limited mouth opening |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Enlarged coronoid process |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Short gastrocnemius |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Reduced elbow supination |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Interphalangeal webbing |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Flexion of fingers when hand dorsiflexed (pseudocamptodactyly) |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Downturning toes |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
32
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
33
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
34
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
35
|
(OMIM)
|
Vertical talipes |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Shortening of flexor profundus muscle-tendon unit |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Shortening of various muscle-tendon groups in legs |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Shortening of various muscle-tendon groups in feet |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
40
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
41
|
(HPO:0005684)
|
Distal arthrogryposis |
|
|
|
|
31 / 7739
|