1
|
(HPO:0001513)
|
Obesity |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
2
|
(HPO:0001182)
|
Tapered finger |
Occasional [Orphanet]
|
|
|
|
93 / 7739
|
3
|
(HPO:0000280)
|
Coarse facial features |
Occasional [Orphanet]
|
|
|
|
189 / 7739
|
4
|
(HPO:0000160)
|
Narrow mouth |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
5
|
(HPO:0008734)
|
Decreased testicular size |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
6
|
(HPO:0000771)
|
Gynecomastia |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
7
|
(HPO:0010313)
|
Breast hypertrophy |
Frequent [Orphanet]
|
|
|
|
6 / 7739
|
8
|
(HPO:0000385)
|
Small earlobe |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
9
|
(HPO:0000387)
|
Absent earlobe |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
10
|
(HPO:0009907)
|
Attached earlobe |
Occasional [Orphanet]
|
|
|
|
2 / 7739
|
11
|
(HPO:0000998)
|
Hypertrichosis |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
12
|
(HPO:0001007)
|
Hirsutism |
Occasional [Orphanet]
|
|
|
|
91 / 7739
|
13
|
(HPO:0002230)
|
Generalized hirsutism |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
14
|
(HPO:0004554)
|
Generalized hypertrichosis |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
15
|
(HPO:0001238)
|
Slender finger |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
16
|
(HPO:0000303)
|
Mandibular prognathia |
Occasional [Orphanet]
|
|
|
|
179 / 7739
|
17
|
(HPO:0000574)
|
Thick eyebrow |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
18
|
(HPO:0001065)
|
Striae distensae |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
19
|
(HPO:0001369)
|
Arthritis |
Occasional [Orphanet]
|
|
|
|
44 / 7739
|
20
|
(HPO:0002758)
|
Osteoarthritis |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
78 / 7739
|
21
|
(HPO:0005059)
|
Arthralgia/arthritis |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
141 / 7739
|
22
|
(HPO:0100769)
|
Synovitis |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
23
|
(HPO:0001251)
|
Ataxia |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
413 / 7739
|
24
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
327 / 7739
|
25
|
(HPO:0002141)
|
Gait imbalance |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
26
|
(HPO:0002311)
|
Incoordination |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
27
|
(HPO:0002321)
|
Vertigo |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
28
|
(Orphanet:13140)
|
Long/large ear |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
29
|
(HPO:0001608)
|
Abnormality of the voice |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
30
|
(HPO:0001611)
|
Nasal speech |
Occasional [Orphanet]
|
|
|
|
48 / 7739
|
31
|
(HPO:0008376)
|
Nasal, dysarthic speech |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
32
|
(HPO:0100271)
|
Hyponasal speech |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
33
|
(HPO:0000307)
|
Pointed chin |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
34
|
(HPO:0000248)
|
Brachycephaly |
Occasional [Orphanet]
|
|
|
|
222 / 7739
|
35
|
(HPO:0005469)
|
Flat occiput |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
36
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
37
|
(HPO:0000028)
|
Cryptorchidism |
Occasional [Orphanet]
|
|
|
|
347 / 7739
|
38
|
(HPO:0008689)
|
Bilateral cryptorchidism |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
38 / 7739
|
39
|
(HPO:0012646)
|
Retractile testis |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
40
|
(HPO:0100830)
|
Round ear |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
41
|
(HPO:0009748)
|
Large earlobe |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
42
|
(HPO:0200055)
|
Small hand |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
43
|
(HPO:0008071)
|
Maternal hypertension |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
44
|
(HPO:0100601)
|
Eclampsia |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
45
|
(HPO:0100602)
|
Preeclampsia |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
46
|
(Orphanet:20300)
|
Irregular length/shape of fingers |
Occasional [Orphanet]
|
|
|
|
1 / 7739
|
47
|
(HPO:0000664)
|
Synophrys |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
48
|
(Orphanet:9200)
|
Protruding lips |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
49
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
50
|
(HPO:0000668)
|
Hypodontia |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
51
|
(HPO:0000674)
|
Anodontia |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
52
|
(HPO:0000677)
|
Oligodontia |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
53
|
(HPO:0000413)
|
Atresia of the external auditory canal |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
54
|
(HPO:0008551)
|
Microtia |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
55
|
(HPO:0009892)
|
Anotia |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
56
|
(HPO:0011252)
|
Cryptotia |
Occasional [Orphanet]
|
|
|
|
2 / 7739
|
57
|
(HPO:0001288)
|
Gait disturbance |
Occasional [Orphanet]
|
|
|
|
318 / 7739
|
58
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
59
|
(HPO:0002121)
|
Absence seizures |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
60
|
(HPO:0002133)
|
Status epilepticus |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
61
|
(HPO:0011097)
|
Epileptic spasms |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
62
|
(HPO:0011147)
|
Typical absence seizures |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
63
|
(HPO:0001004)
|
Lymphedema |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
64
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
65
|
(HPO:0002209)
|
Sparse scalp hair |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
66
|
(HPO:0004528)
|
Generalized hypotrichosis |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
67
|
(HPO:0000384)
|
Preauricular skin tag |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
68
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
69
|
(HPO:0002300)
|
Mutism |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
70
|
(HPO:0002357)
|
Dysphasia |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
71
|
(HPO:0002381)
|
Aphasia |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
72
|
(HPO:0010529)
|
Echolalia |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
73
|
(HPO:0001249)
|
Intellectual disability |
Occasional [Orphanet]
|
|
|
|
1089 / 7739
|
74
|
(HPO:0001263)
|
Global developmental delay |
Occasional [Orphanet]
|
|
|
|
853 / 7739
|
75
|
(HPO:0001270)
|
Motor delay |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
76
|
(HPO:0001328)
|
Specific learning disability |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
77
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
78
|
(HPO:0000232)
|
Everted lower lip vermilion |
Occasional [Orphanet]
|
|
|
|
90 / 7739
|
79
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
80
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
81
|
(HPO:0000336)
|
Prominent supraorbital ridges |
|
|
|
|
45 / 7739
|
82
|
(HPO:0000400)
|
Macrotia |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
83
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
84
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
85
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
86
|
(HPO:0000692)
|
Misalignment of teeth |
|
|
|
|
18 / 7739
|
87
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
88
|
(HPO:0002200)
|
Pseudobulbar signs |
|
|
|
|
15 / 7739
|
89
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
90
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
91
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
92
|
(HPO:0001956)
|
Truncal obesity |
|
|
|
|
39 / 7739
|
93
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
94
|
(HPO:0002648)
|
Abnormality of calvarial morphology |
Occasional [Orphanet]
|
|
|
|
2 / 7739
|
95
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
96
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
97
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
98
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
99
|
(HPO:0008736)
|
Hypoplasia of penis |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
100
|
(HPO:0009804)
|
Reduced number of teeth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
101
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
102
|
(HPO:0100543)
|
Cognitive impairment |
Occasional [Orphanet]
|
|
|
|
230 / 7739
|
103
|
(HPO:0100603)
|
Toxemia of pregnancy |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
104
|
(OMIM)
|
High malar bones |
|
|
|
|
1 / 7739
|
105
|
(OMIM)
|
Short ears |
|
|
|
|
2 / 7739
|
106
|
(OMIM)
|
Long columella |
|
|
|
|
3 / 7739
|
107
|
(OMIM)
|
Thin upper vermilion |
|
|
|
|
3 / 7739
|
108
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
109
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
110
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
111
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|