|
1
|
(HPO:0000233)
|
Thin vermilion border |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
|
5
|
(HPO:0008734)
|
Decreased testicular size |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000160)
|
Narrow mouth |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
|
8
|
(HPO:0000276)
|
Long face |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
|
9
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
10
|
(HPO:0000444)
|
Convex nasal ridge |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
11
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
|
12
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
13
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
14
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
15
|
(HPO:0001608)
|
Abnormality of the voice |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
16
|
(HPO:0001863)
|
Toe clinodactyly |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
|
17
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
18
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
19
|
(HPO:0000248)
|
Brachycephaly |
Occasional [Orphanet]
|
|
|
|
222 / 7739
|
|
20
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
21
|
(HPO:0000426)
|
Prominent nasal bridge |
Frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
22
|
(HPO:0000752)
|
Hyperactivity |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
|
23
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
|
24
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
|
25
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
|
26
|
(HPO:0010055)
|
Broad hallux |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
27
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
|
28
|
(HPO:0002213)
|
Fine hair |
Frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
29
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
30
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
|
31
|
(HPO:0011302)
|
Long palm |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
32
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
33
|
(HPO:0002360)
|
Sleep disturbance |
Occasional [Orphanet]
|
|
|
|
113 / 7739
|
|
34
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
|
35
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
36
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
37
|
(HPO:0000343)
|
Long philtrum |
Occasional [Orphanet]
|
|
|
|
262 / 7739
|
|
38
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
39
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
40
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
41
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
42
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
43
|
(HPO:0000698)
|
Conical tooth |
|
|
|
|
14 / 7739
|
|
44
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
45
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
46
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
|
47
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
48
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
49
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
|
50
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
51
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
52
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
53
|
(HPO:0009804)
|
Reduced number of teeth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
54
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
55
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
56
|
(OMIM)
|
Growth retardation, pre- and postnatal |
|
|
|
|
3 / 7739
|
|
57
|
(OMIM)
|
Thin nose |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Delayed primary dentition |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
[DEL] Happy demeanor |
|
|
|
|
5 / 7739
|
|
60
|
(OMIM)
|
Contiguous gene deletion syndrome |
|
|
|
|
23 / 7739
|
|
61
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
62
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
63
|
(HPO:0001172)
|
Abnormality of the thumb |
Occasional [Orphanet]
|
|
|
|
103 / 7739
|
|
64
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
65
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
66
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
67
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
68
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
|
69
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
70
|
(HPO:0003189)
|
Long nose |
|
|
|
|
20 / 7739
|
|
71
|
(HPO:0040082)
|
Happy demeanor |
|
|
|
|
6 / 7739
|