1
|
(HPO:0000733)
|
Stereotypy |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
2
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
3
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
6
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
7
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
8
|
(HPO:0000276)
|
Long face |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
9
|
(HPO:0000957)
|
Cafe-au-lait spot |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
10
|
(HPO:0000445)
|
Wide nose |
Occasional [Orphanet]
|
|
|
|
190 / 7739
|
11
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
12
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
13
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
14
|
(HPO:0007021)
|
Pain insensitivity |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
15
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
16
|
(HPO:0000490)
|
Deeply set eye |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
17
|
(HPO:0000348)
|
High forehead |
Occasional [Orphanet]
|
|
|
|
157 / 7739
|
18
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
539 / 7739
|
19
|
(HPO:0000389)
|
Chronic otitis media |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
20
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
21
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
22
|
(HPO:0003196)
|
Short nose |
Occasional [Orphanet]
|
|
|
|
264 / 7739
|
23
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
24
|
(HPO:0002104)
|
Apnea |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
25
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
26
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
1232 / 7739
|
27
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
28
|
(HPO:0000194)
|
Open mouth |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
29
|
(HPO:0002360)
|
Sleep disturbance |
Occasional [Orphanet]
|
|
|
|
113 / 7739
|
30
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
31
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
32
|
(HPO:0000601)
|
Hypotelorism |
Occasional [Orphanet]
|
|
|
|
83 / 7739
|
33
|
(HPO:0009623)
|
Proximal placement of thumb |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
34
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
35
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
36
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
37
|
(HPO:0012368)
|
Flat face |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
38
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
39
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
40
|
(HPO:0001511)
|
Intrauterine growth retardation |
rare [HPO:skoehler]
|
|
|
|
358 / 7739
|
41
|
(HPO:0001702)
|
Abnormality of the tricuspid valve |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
42
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
43
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
44
|
(OMIM)
|
Recurrent ear infections |
|
|
|
|
3 / 7739
|
45
|
(OMIM)
|
Small eyes |
|
|
|
|
3 / 7739
|
46
|
(OMIM)
|
Congenital cardiac defects (less common) |
|
|
|
|
1 / 7739
|
47
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
48
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
49
|
(OMIM)
|
Severe speech impairment |
|
|
|
|
1 / 7739
|
50
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
51
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
52
|
(OMIM)
|
No autism |
|
|
|
|
1 / 7739
|
53
|
(HPO:0002577)
|
Abnormality of the stomach |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
54
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
55
|
(HPO:0005105)
|
Abnormal nasal morphology |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
56
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
57
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
58
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
59
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
60
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
61
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
62
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
63
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|