|
1
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
|
4
|
(HPO:0000275)
|
Narrow face |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
5
|
(HPO:0000276)
|
Long face |
Frequent [Orphanet]
|
|
|
|
109 / 7739
|
|
6
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
7
|
(HPO:0000303)
|
Mandibular prognathia |
Frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
8
|
(HPO:0000411)
|
Protruding ear |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
9
|
(HPO:0002616)
|
Aortic root dilatation |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
10
|
(HPO:0000053)
|
Macroorchidism |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
11
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
12
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
13
|
(HPO:0000752)
|
Hyperactivity |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
14
|
(HPO:0000389)
|
Chronic otitis media |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
15
|
(HPO:0100716)
|
Self-injurious behavior |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
|
16
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
17
|
(HPO:0000246)
|
Sinusitis |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
18
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
19
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
20
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
21
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
22
|
(HPO:0001763)
|
Pes planus |
Very frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
23
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
24
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
25
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
26
|
(HPO:0000817)
|
Poor eye contact |
|
|
|
|
26 / 7739
|
|
27
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
28
|
(HPO:0002003)
|
Large forehead |
|
|
|
|
9 / 7739
|
|
29
|
(HPO:0002050)
|
Macroorchidism, postpubertal |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
31
|
(HPO:0002342)
|
Intellectual disability, moderate |
typical [HPO:skoehler]
|
|
|
|
37 / 7739
|
|
32
|
(HPO:0002457)
|
Abnormal head movements |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
34
|
(HPO:0003564)
|
Folate-dependent fragile site at Xq28 |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0007165)
|
Periventricular gray matter heterotopia |
|
|
|
|
4 / 7739
|
|
36
|
(HPO:0008640)
|
Congenital macroorchidism |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Periventricular heterotopia |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
39
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
40
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
|
41
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
42
|
(HPO:0002577)
|
Abnormality of the stomach |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
43
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
44
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
|
45
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|