|
1
|
(HPO:0003019)
|
Abnormality of the wrist |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
2
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
3
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
4
|
(HPO:0000275)
|
Narrow face |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
5
|
(HPO:0000411)
|
Protruding ear |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
6
|
(HPO:0000954)
|
Single transverse palmar crease |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
8
|
(HPO:0009465)
|
Ulnar deviation of finger |
Frequent [Orphanet]
|
|
|
|
48 / 7739
|
|
9
|
(HPO:0000465)
|
Webbed neck |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
11
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
12
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
13
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
14
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
15
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
16
|
(HPO:0100830)
|
Round ear |
Frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
18
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
19
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
20
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
21
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
22
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
23
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
24
|
(HPO:0000598)
|
Abnormality of the ear |
|
|
|
|
98 / 7739
|
|
25
|
(HPO:0001193)
|
Ulnar deviation of the hand or of fingers of the hand |
|
|
|
|
17 / 7739
|
|
26
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
27
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
28
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
|
29
|
(HPO:0001848)
|
Calcaneovalgus deformity |
|
|
|
|
12 / 7739
|
|
30
|
(HPO:0003049)
|
Ulnar deviation of the wrist |
|
|
|
|
6 / 7739
|
|
31
|
(HPO:0003422)
|
Vertebral segmentation defect |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
32
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
33
|
(HPO:0005272)
|
Prominent nasolabial fold |
|
|
|
|
4 / 7739
|
|
34
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
35
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
36
|
(HPO:0005684)
|
Distal arthrogryposis |
|
|
|
|
31 / 7739
|
|
37
|
(HPO:0006109)
|
Absent phalangeal crease |
|
|
|
|
4 / 7739
|
|
38
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|
|
39
|
(OMIM)
|
Small, prominent chin |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Attached ear lobules |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Precocious arthrosis |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Ulnar wrist deviation |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Severe camptodactyly |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
Ulnar deviation |
|
|
|
|
5 / 7739
|
|
45
|
(OMIM)
|
Overriding fingers (neonate) |
|
|
|
|
2 / 7739
|
|
46
|
(OMIM)
|
Thumb adduction |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Contractures of the proximal interphalangeal (PIP) joints |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Contractures of the metacarpophalangeal joints |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Hypoplastic or absent interphalangeal creases |
|
|
|
|
1 / 7739
|
|
50
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
51
|
(HPO:0009466)
|
Radial deviation of finger |
Frequent [Orphanet]
|
|
|
|
101 / 7739
|
|
52
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
53
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|