1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0000733)
|
Stereotypy |
Very frequent [Orphanet]
common [HPO]
|
|
|
|
58 / 7739
|
3
|
(HPO:0000158)
|
Macroglossia |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
5
|
(HPO:0000303)
|
Mandibular prognathia |
Frequent [Orphanet]
common [HPO]
|
|
|
|
179 / 7739
|
6
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
|
|
|
|
164 / 7739
|
7
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
8
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
9
|
(HPO:0000431)
|
Wide nasal bridge |
typical [HPO]
|
|
|
|
290 / 7739
|
10
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
11
|
(HPO:0001265)
|
Hyporeflexia |
common [HPO]
|
|
|
|
208 / 7739
|
12
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
13
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
14
|
(HPO:0010804)
|
Tented upper lip vermilion |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
15
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
16
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
|
|
185 / 7739
|
17
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
18
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
19
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
705 / 7739
|
20
|
(HPO:0002155)
|
Hypertriglyceridemia |
typical [HPO]
|
|
|
|
67 / 7739
|
21
|
(HPO:0003124)
|
Hypercholesterolemia |
typical [HPO]
|
|
|
|
53 / 7739
|
22
|
(HPO:0000490)
|
Deeply set eye |
Very frequent [Orphanet]
common [HPO]
|
|
|
|
131 / 7739
|
23
|
(HPO:0001557)
|
Prenatal movement abnormality |
Frequent [Orphanet]
|
|
|
|
16 / 7739
|
24
|
(HPO:0000482)
|
Microcornea |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
25
|
(HPO:0000752)
|
Hyperactivity |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
26
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
27
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
28
|
(HPO:0000541)
|
Retinal detachment |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
87 / 7739
|
29
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
30
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
31
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
32
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
frequent [HPO]
|
|
|
|
1245 / 7739
|
33
|
(HPO:0000742)
|
Self-mutilation |
common [HPO]
|
|
|
|
27 / 7739
|
34
|
(HPO:0100716)
|
Self-injurious behavior |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
35
|
(HPO:0000283)
|
Broad face |
common [HPO]
|
|
|
|
12 / 7739
|
36
|
(HPO:0100729)
|
Large face |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
37
|
(HPO:0000194)
|
Open mouth |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
38
|
(HPO:0002360)
|
Sleep disturbance |
Very frequent [Orphanet]
common [HPO]
|
|
|
|
113 / 7739
|
39
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
common [HPO]
|
|
|
|
323 / 7739
|
40
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
194 / 7739
|
41
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
253 / 7739
|
42
|
(HPO:0001763)
|
Pes planus |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
176 / 7739
|
43
|
(HPO:0009830)
|
Peripheral neuropathy |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
44
|
(HPO:0001513)
|
Obesity |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
45
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
46
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
47
|
(HPO:0010780)
|
Hyperacusis |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
5 / 7739
|
48
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
49
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
188 / 7739
|
50
|
(HPO:0007021)
|
Pain insensitivity |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
51
|
(HPO:0007328)
|
Impaired pain sensation |
typical [HPO]
|
|
|
|
10 / 7739
|
52
|
(HPO:0001608)
|
Abnormality of the voice |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
53
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
common [HPO]
|
|
|
|
222 / 7739
|
54
|
(HPO:0000826)
|
Precocious puberty |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
55
|
(HPO:0000664)
|
Synophrys |
Very frequent [Orphanet]
typical [HPO]
|
|
|
|
112 / 7739
|
56
|
(HPO:0000389)
|
Chronic otitis media |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
57
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
58
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
59
|
(HPO:0000204)
|
Cleft upper lip |
Occasional [Orphanet]
|
|
|
|
193 / 7739
|
60
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
61
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
62
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
1232 / 7739
|
63
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
64
|
(HPO:0000679)
|
Taurodontia |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
65
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
66
|
(HPO:0000220)
|
Velopharyngeal insufficiency |
Very frequent [Orphanet]
typical [HPO]
|
|
|
|
10 / 7739
|
67
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
68
|
(HPO:0001263)
|
Global developmental delay |
common [HPO]
|
|
|
|
853 / 7739
|
69
|
(HPO:0000069)
|
Abnormality of the ureter |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
70
|
(HPO:0000356)
|
Abnormality of the outer ear |
typical [HPO]
|
|
|
|
85 / 7739
|
71
|
(HPO:0000750)
|
Delayed speech and language development |
common [HPO]
|
|
|
|
197 / 7739
|
72
|
(HPO:0001169)
|
Broad palm |
common [HPO]
|
|
|
|
43 / 7739
|
73
|
(HPO:0001290)
|
Generalized hypotonia |
common [HPO]
|
|
|
|
51 / 7739
|
74
|
(HPO:0001609)
|
Hoarse voice |
common [HPO]
|
|
|
|
34 / 7739
|
75
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
76
|
(HPO:0002973)
|
Abnormality of the forearm |
occasional [HPO]
|
|
|
|
3 / 7739
|
77
|
(HPO:0005607)
|
Abnormality of the tracheobronchial system |
typical [HPO]
|
|
|
|
2 / 7739
|
78
|
(HPO:0008609)
|
Morphological abnormality of the middle ear |
common [HPO]
|
|
|
|
2 / 7739
|
79
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
80
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
81
|
(HPO:0010803)
|
Everted upper lip vermilion |
common [HPO]
|
|
|
|
4 / 7739
|
82
|
(HPO:0012168)
|
Head-banging |
|
|
|
|
2 / 7739
|
83
|
(HPO:0012210)
|
Abnormal renal morphology |
|
|
|
|
18 / 7739
|
84
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
85
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
86
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
87
|
(OMIM)
|
Structural brain abnormalities |
|
|
|
|
1 / 7739
|
88
|
(OMIM)
|
Decreased pain sensitivity |
|
|
|
|
2 / 7739
|
89
|
(OMIM)
|
Normal nerve conduction velocities |
|
|
|
|
2 / 7739
|
90
|
(OMIM)
|
Polyembolokoilamania (insertion of foreign bodies into body orifices) |
|
|
|
|
1 / 7739
|
91
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
92
|
(OMIM)
|
Self-destructive behavior |
|
|
|
|
1 / 7739
|
93
|
(OMIM)
|
Onychotillomania (pulling out nails) |
|
|
|
|
1 / 7739
|
94
|
(OMIM)
|
Wrist-biting |
|
|
|
|
1 / 7739
|
95
|
(OMIM)
|
Interstitial deletion of 17p11.2 (most common is 3.7Mb) |
|
|
|
|
1 / 7739
|
96
|
(HPO:0002577)
|
Abnormality of the stomach |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
97
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
98
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
99
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
100
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
101
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
102
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
103
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
104
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
105
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
106
|
(HPO:0000272)
|
Malar flattening |
common [HPO]
|
|
|
|
277 / 7739
|
107
|
(HPO:0001156)
|
Brachydactyly syndrome |
common [HPO]
|
|
|
|
180 / 7739
|
108
|
(HPO:0001600)
|
Abnormality of the larynx |
common [HPO]
|
|
|
|
15 / 7739
|
109
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
110
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
frequent [HPO]
|
|
|
|
355 / 7739
|