1
|
(HPO:0000733)
|
Stereotypy |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
3
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
4
|
(HPO:0000405)
|
Conductive hearing impairment |
Occasional [Orphanet]
|
|
|
|
164 / 7739
|
5
|
(HPO:0002779)
|
Tracheomalacia |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
6
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
7
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Frequent [Orphanet]
|
|
|
|
185 / 7739
|
8
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
9
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
10
|
(HPO:0000490)
|
Deeply set eye |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
11
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
12
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
13
|
(HPO:0000752)
|
Hyperactivity |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
14
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
15
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
16
|
(HPO:0002714)
|
Downturned corners of mouth |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
17
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
18
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
19
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
20
|
(HPO:0002360)
|
Sleep disturbance |
Occasional [Orphanet]
|
|
|
|
113 / 7739
|
21
|
(HPO:0000233)
|
Thin vermilion border |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
22
|
(HPO:0000311)
|
Round face |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
23
|
(HPO:0001513)
|
Obesity |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
24
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
25
|
(HPO:0002667)
|
Nephroblastoma |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
26
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
27
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
28
|
(HPO:0002553)
|
Highly arched eyebrow |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
29
|
(HPO:0010761)
|
Broad columella |
Frequent [Orphanet]
|
|
|
|
10 / 7739
|
30
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
31
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
32
|
(HPO:0200055)
|
Small hand |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
33
|
(HPO:0000964)
|
Eczema |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
34
|
(HPO:0000470)
|
Short neck |
Occasional [Orphanet]
|
|
|
|
345 / 7739
|
35
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
36
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
37
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
38
|
(HPO:0001601)
|
Laryngomalacia |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
39
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
40
|
(HPO:0002558)
|
Supernumerary nipple |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
41
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
42
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
43
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
44
|
(HPO:0002021)
|
Pyloric stenosis |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
45
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
46
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
47
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
48
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
49
|
(HPO:0000283)
|
Broad face |
|
|
|
|
12 / 7739
|
50
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
51
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
52
|
(HPO:0100716)
|
Self-injurious behavior |
|
|
|
|
43 / 7739
|
53
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
54
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
55
|
(HPO:0001682)
|
Subaortic stenosis |
rare [HPO:skoehler]
|
|
|
|
17 / 7739
|
56
|
(HPO:0001773)
|
Short foot |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
57
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
58
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
59
|
(HPO:0007021)
|
Pain insensitivity |
|
|
|
|
35 / 7739
|
60
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
61
|
(HPO:0011675)
|
Arrhythmia |
rare [HPO:skoehler]
|
|
|
|
226 / 7739
|
62
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
63
|
(HPO:0000407)
|
Sensorineural hearing impairment |
rare [HPO:skoehler]
|
|
|
|
524 / 7739
|
64
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
65
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
66
|
(HPO:0005863)
|
Type E brachydactyly |
|
|
|
|
4 / 7739
|
67
|
(OMIM)
|
Proximally placed fourth toe |
|
|
|
|
1 / 7739
|
68
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
69
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
70
|
(OMIM)
|
Repetitive behaviors |
|
|
|
|
2 / 7739
|
71
|
(OMIM)
|
Normal G(s)-alpha levels (139320) |
|
|
|
|
1 / 7739
|
72
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
73
|
(HPO:0004404)
|
Abnormality of the nipple |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
74
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
75
|
(HPO:0000107)
|
Renal cyst |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
76
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
77
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
78
|
(HPO:0001428)
|
Somatic mutation |
|
|
|
|
100 / 7739
|
79
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|