|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
4
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
5
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
6
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
7
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
|
8
|
(HPO:0002992)
|
Abnormality of the tibia |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
9
|
(HPO:0009556)
|
Absent tibia |
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
11
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
12
|
(HPO:0003974)
|
Absent radius |
|
|
|
|
26 / 7739
|
|
13
|
(HPO:0003019)
|
Abnormality of the wrist |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
14
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
15
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
16
|
(HPO:0001770)
|
Toe syndactyly |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
17
|
(HPO:0002714)
|
Downturned corners of mouth |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
18
|
(HPO:0010503)
|
Fibular duplication |
|
|
|
|
2 / 7739
|
|
19
|
(HPO:0001841)
|
Preaxial foot polydactyly |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
20
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
21
|
(HPO:0000271)
|
Abnormality of the face |
|
|
|
|
108 / 7739
|
|
22
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
23
|
(HPO:0001161)
|
Hand polydactyly |
|
|
|
|
71 / 7739
|
|
24
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
25
|
(HPO:0001199)
|
Triphalangeal thumb |
|
|
|
|
56 / 7739
|
|
26
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
27
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
28
|
(HPO:0006443)
|
Patellar aplasia |
|
|
|
|
14 / 7739
|
|
29
|
(OMIM)
|
Cleft nares, bilateral |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Grooved columella |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Zeugopodial duplication, symmetrical |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Ulnar duplication |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Dysplastic tibia |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Dislocation of the patella |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Autopodial duplication, symmetrical |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Duplication of bones of the hand |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Dysplastic carpal bones |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Polydactyly, preaxial or postaxial |
|
|
|
|
4 / 7739
|
|
39
|
(OMIM)
|
Cup-shaped hands |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Broad, short feet |
|
|
|
|
8 / 7739
|
|
41
|
(OMIM)
|
Dysplastic tarsal bones |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Duplication of bones of the feet |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0009924)
|
Aplasia/Hypoplasia involving the nose |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
44
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
45
|
(HPO:0000436)
|
Abnormality of the nasal tip |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
46
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
47
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
48
|
(HPO:0002813)
|
Abnormality of limb bone morphology |
Frequent [Orphanet]
|
|
|
|
3 / 7739
|
|
49
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
50
|
(HPO:0001769)
|
Broad foot |
|
|
|
|
31 / 7739
|