1
|
(HPO:0000490)
|
Deeply set eye |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
3
|
(HPO:0003298)
|
Spina bifida occulta |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
4
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
5
|
(HPO:0000271)
|
Abnormality of the face |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
6
|
(HPO:0000664)
|
Synophrys |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
7
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
8
|
(HPO:0000046)
|
Scrotal hypoplasia |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
9
|
(HPO:0002857)
|
Genu valgum |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
10
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
11
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
12
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
13
|
(HPO:0002714)
|
Downturned corners of mouth |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
14
|
(HPO:0000322)
|
Short philtrum |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
15
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
16
|
(HPO:0002162)
|
Low posterior hairline |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
18
|
(HPO:0009553)
|
Abnormality of the hairline |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
19
|
(HPO:0000037)
|
Male pseudohermaphroditism |
|
|
|
|
25 / 7739
|
20
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
21
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
22
|
(HPO:0000567)
|
Chorioretinal coloboma |
|
|
|
|
26 / 7739
|
23
|
(HPO:0000611)
|
Choroid coloboma |
|
|
|
|
12 / 7739
|
24
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
25
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
26
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
27
|
(HPO:0004404)
|
Abnormality of the nipple |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
28
|
(HPO:0005857)
|
Cervical spina bifida |
|
|
|
|
1 / 7739
|
29
|
(HPO:0007633)
|
Bilateral microphthalmos |
|
|
|
|
13 / 7739
|
30
|
(HPO:0007851)
|
Temporal displacement of maculae |
|
|
|
|
1 / 7739
|
31
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
32
|
(OMIM)
|
Sexual ambiguity |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Lateral neck webbing |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Small eyes |
|
|
|
|
3 / 7739
|
35
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
36
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
37
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
38
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|