1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
3
|
(HPO:0001519)
|
Disproportionate tall stature |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
4
|
(HPO:0001199)
|
Triphalangeal thumb |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
5
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
6
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
7
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
8
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
9
|
(HPO:0001822)
|
Hallux valgus |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
10
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
11
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
12
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
13
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
14
|
(HPO:0003042)
|
Elbow dislocation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
15
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
16
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
17
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
18
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
19
|
(HPO:0003100)
|
Slender long bone |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
20
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
21
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
22
|
(HPO:0001833)
|
Long foot |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
23
|
(HPO:0001601)
|
Laryngomalacia |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
24
|
(HPO:0000232)
|
Everted lower lip vermilion |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
25
|
(HPO:0006487)
|
Bowing of the long bones |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
26
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
27
|
(HPO:0011302)
|
Long palm |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
28
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
29
|
(HPO:0000446)
|
Narrow nasal bridge |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
30
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
31
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
32
|
(HPO:0000460)
|
Narrow nose |
|
|
|
|
14 / 7739
|
33
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
34
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
35
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
36
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
37
|
(HPO:0000895)
|
Lateral clavicle hook |
|
|
|
|
11 / 7739
|
38
|
(HPO:0001195)
|
Single umbilical artery |
|
|
|
|
23 / 7739
|
39
|
(HPO:0001786)
|
Narrow foot |
|
|
|
|
11 / 7739
|
40
|
(HPO:0001836)
|
Camptodactyly of toe |
|
|
|
|
27 / 7739
|
41
|
(HPO:0001847)
|
Long hallux |
|
|
|
|
13 / 7739
|
42
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
43
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
44
|
(HPO:0003031)
|
Ulnar bowing |
|
|
|
|
16 / 7739
|
45
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
46
|
(HPO:0005033)
|
Distal ulnar hypoplasia |
|
|
|
|
4 / 7739
|
47
|
(HPO:0006236)
|
Slender metacarpals |
|
|
|
|
2 / 7739
|
48
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
49
|
(HPO:0006633)
|
Glenoid fossa hypoplasia |
|
|
|
|
2 / 7739
|
50
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
51
|
(HPO:0010307)
|
Stridor |
|
|
|
|
19 / 7739
|
52
|
(HPO:0010493)
|
Long metacarpals |
|
|
|
|
1 / 7739
|
53
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
54
|
(OMIM)
|
Downslanting eyebrows |
|
|
|
|
2 / 7739
|
55
|
(OMIM)
|
Tightly coiled epiglottis |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Shortened aryepiglottic folds |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Globular cuneiform cartilage |
|
|
|
|
1 / 7739
|
58
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
59
|
(OMIM)
|
Small anterior cranial fossa |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
Slender hands |
|
|
|
|
2 / 7739
|
61
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
62
|
(OMIM)
|
Hypoplastic distal digital creases |
|
|
|
|
1 / 7739
|
63
|
(OMIM)
|
Long thumbs |
|
|
|
|
2 / 7739
|
64
|
(OMIM)
|
Long, slender metacarpals |
|
|
|
|
1 / 7739
|
65
|
(OMIM)
|
Long, slender phalanges |
|
|
|
|
1 / 7739
|
66
|
(OMIM)
|
Cerebellar enlargement |
|
|
|
|
1 / 7739
|
67
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
68
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
69
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
70
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
71
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
72
|
(HPO:0000647)
|
Sclerocornea |
rare [HPO:skoehler]
|
|
|
|
25 / 7739
|
73
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|