1
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
2
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
3
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
4
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
5
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
6
|
(HPO:0001762)
|
Talipes equinovarus |
rare [HPO:skoehler]
|
|
|
|
309 / 7739
|
7
|
(HPO:0004696)
|
Talipes cavus equinovarus |
|
|
|
|
13 / 7739
|
8
|
(HPO:0001848)
|
Calcaneovalgus deformity |
rare [HPO:skoehler]
|
|
|
|
12 / 7739
|
9
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
10
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
11
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
12
|
(OMIM)
|
Ptosis, unilateral or more severe on one side |
|
|
|
|
1 / 7739
|
13
|
(OMIM)
|
Neck contractures |
|
|
|
|
2 / 7739
|
14
|
(OMIM)
|
Dislocated hips, bilateral (in some patients) |
|
|
|
|
1 / 7739
|
15
|
(OMIM)
|
Contractures of shoulders |
|
|
|
|
1 / 7739
|
16
|
(OMIM)
|
Contractures of wrists |
|
|
|
|
1 / 7739
|
17
|
(OMIM)
|
Extension contractures of knees |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Severe camptodactyly |
|
|
|
|
2 / 7739
|
19
|
(OMIM)
|
Adducted wrists |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Camptodactyly, mild |
|
|
|
|
1 / 7739
|
21
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
22
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
23
|
(HPO:0004684)
|
Talipes valgus |
|
|
|
|
28 / 7739
|
24
|
(OMIM)
|
Pterygia of neck (in some patients) |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Pterygia of axillae (in some patients) |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Pterygia of elbows (in some patients) |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Pterygia of groin (in some patients) |
|
|
|
|
1 / 7739
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
29
|
(HPO:0000059)
|
Hypoplastic labia majora |
rare [HPO:skoehler]
|
|
|
|
22 / 7739
|
30
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
31
|
(HPO:0000221)
|
Furrowed tongue |
|
|
|
|
24 / 7739
|
32
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
33
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
34
|
(HPO:0003307)
|
Hyperlordosis |
rare [HPO:skoehler]
|
|
|
|
122 / 7739
|
35
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|