1
|
(HPO:0000733)
|
Stereotypy |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
2
|
(HPO:0000280)
|
Coarse facial features |
Frequent [Orphanet]
|
|
|
|
189 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
5
|
(HPO:0002553)
|
Highly arched eyebrow |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
6
|
(HPO:0002591)
|
Polyphagia |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
7
|
(HPO:0001852)
|
Sandal gap |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
8
|
(HPO:0010804)
|
Tented upper lip vermilion |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
9
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
10
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
11
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
12
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
13
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
14
|
(HPO:0000664)
|
Synophrys |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
15
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
16
|
(HPO:0000712)
|
Emotional lability |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
17
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
18
|
(HPO:0000232)
|
Everted lower lip vermilion |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
19
|
(HPO:0000337)
|
Broad forehead |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
20
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
21
|
(HPO:0100716)
|
Self-injurious behavior |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
22
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
23
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
24
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
25
|
(HPO:0000194)
|
Open mouth |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
26
|
(HPO:0001572)
|
Macrodontia |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
27
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
28
|
(HPO:0002360)
|
Sleep disturbance |
Frequent [Orphanet]
|
|
|
|
113 / 7739
|
29
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
30
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
31
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
32
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
33
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
34
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
35
|
(HPO:0000331)
|
Short chin |
|
|
|
|
33 / 7739
|
36
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
37
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
38
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
39
|
(HPO:0000483)
|
Astigmatism |
|
|
|
|
67 / 7739
|
40
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
41
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
42
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
43
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
44
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
45
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
46
|
(HPO:0000736)
|
Short attention span |
|
|
|
|
16 / 7739
|
47
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
48
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
49
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
50
|
(HPO:0002463)
|
Language impairment |
|
|
|
|
15 / 7739
|
51
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
52
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
53
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
54
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|
55
|
(OMIM)
|
Outer ear abnormalities (deletion patients) Prominent ears |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Small ears with large lobules |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Large simple ears |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Abnormal ear |
|
|
|
|
2 / 7739
|
59
|
(OMIM)
|
Small bulbous nose (younger individuals) |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
Large prominent nose (older individuals) |
|
|
|
|
1 / 7739
|
61
|
(OMIM)
|
Thick everted lower lip (deletion patients) |
|
|
|
|
4 / 7739
|
62
|
(HPO:0001786)
|
Narrow foot |
|
|
|
|
11 / 7739
|
63
|
(OMIM)
|
Hypotonia, infantile |
|
|
|
|
2 / 7739
|
64
|
(OMIM)
|
Febrile seizures in infancy |
|
|
|
|
1 / 7739
|
65
|
(OMIM)
|
Non-febrile seizures later |
|
|
|
|
1 / 7739
|
66
|
(OMIM)
|
Sleep abnormalities |
|
|
|
|
1 / 7739
|
67
|
(OMIM)
|
Hypoactivity |
|
|
|
|
1 / 7739
|
68
|
(OMIM)
|
Limited social interactions |
|
|
|
|
1 / 7739
|
69
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
70
|
(HPO:0011362)
|
Abnormal hair quantity |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
71
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
72
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
73
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
74
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|