|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000160)
|
Narrow mouth |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
|
3
|
(HPO:0001760)
|
Abnormality of the foot |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
4
|
(HPO:0000444)
|
Convex nasal ridge |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
5
|
(HPO:0002857)
|
Genu valgum |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
|
6
|
(HPO:0001155)
|
Abnormality of the hand |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
7
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
|
8
|
(HPO:0000272)
|
Malar flattening |
Occasional [Orphanet]
|
|
|
|
277 / 7739
|
|
9
|
(HPO:0100240)
|
Synostosis of joints |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
10
|
(HPO:0002815)
|
Abnormality of the knee |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
|
11
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
12
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
13
|
(HPO:0001786)
|
Narrow foot |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
15
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
16
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
17
|
(HPO:0003063)
|
Abnormality of the humerus |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
18
|
(HPO:0000325)
|
Triangular face |
Occasional [Orphanet]
|
|
|
|
91 / 7739
|
|
19
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
20
|
(HPO:0003019)
|
Abnormality of the wrist |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
21
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
22
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
23
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
24
|
(HPO:0003028)
|
Abnormality of the ankles |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
25
|
(HPO:0002823)
|
Abnormality of the femur |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
26
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
27
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
28
|
(HPO:0005048)
|
Synostosis of carpal bones |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
29
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
30
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
31
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
|
32
|
(HPO:0010285)
|
Oral synechia |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
33
|
(HPO:0001773)
|
Short foot |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
34
|
(HPO:0009465)
|
Ulnar deviation of finger |
Very frequent [Orphanet]
|
|
|
|
48 / 7739
|
|
35
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
36
|
(HPO:0010292)
|
Absent uvula |
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0010293)
|
Aplasia/Hypoplasia of the uvula |
Very frequent [Orphanet]
|
|
|
|
3 / 7739
|
|
38
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
39
|
(HPO:0000343)
|
Long philtrum |
Occasional [Orphanet]
|
|
|
|
262 / 7739
|
|
40
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
41
|
(HPO:0000308)
|
Microretrognathia |
|
|
|
|
78 / 7739
|
|
42
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
43
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
44
|
(HPO:0001193)
|
Ulnar deviation of the hand or of fingers of the hand |
|
|
|
|
17 / 7739
|
|
45
|
(HPO:0001196)
|
Short umbilical cord |
3/5 [HPO:probinson]
|
|
|
|
4 / 7739
|
|
46
|
(HPO:0001438)
|
Abnormality of the abdomen |
|
|
|
|
28 / 7739
|
|
47
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
|
48
|
(HPO:0003468)
|
Abnormality of the vertebrae |
|
|
|
|
77 / 7739
|
|
49
|
(HPO:0005694)
|
Partial fusion of proximal row of carpal bones |
|
|
|
|
1 / 7739
|
|
50
|
(HPO:0005891)
|
Progressive forearm bowing |
|
|
|
|
1 / 7739
|
|
51
|
(HPO:0008845)
|
Mesomelic short stature |
|
|
|
|
5 / 7739
|
|
52
|
(OMIM)
|
Hypoplasia of the soft palate |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Complex congenital heart defect |
|
|
|
|
3 / 7739
|
|
54
|
(OMIM)
|
Limited range of motion in joints |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Mild vertebral anomalies |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Short limbs |
|
|
|
|
17 / 7739
|
|
57
|
(OMIM)
|
Brachymetacarpy rays 3-5 |
|
|
|
|
1 / 7739
|
|
58
|
(HPO:0009701)
|
Metacarpal synostosis |
|
|
|
|
4 / 7739
|
|
59
|
(OMIM)
|
Dysfunctional ankle joints |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
Brachymetatarsy rays 3-5 |
|
|
|
|
1 / 7739
|
|
61
|
(OMIM)
|
Metatarsal synostoses (2 to 5) |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Short umbilical cord with unusually long skin coverage (in 3 of 5 patients) |
|
|
|
|
1 / 7739
|
|
63
|
(HPO:0005105)
|
Abnormal nasal morphology |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
|
64
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
65
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
66
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
67
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|