1
|
(HPO:0000037)
|
Male pseudohermaphroditism |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
2
|
(HPO:0000194)
|
Open mouth |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
3
|
(HPO:0000238)
|
Hydrocephalus |
Frequent [Orphanet]
|
|
|
|
278 / 7739
|
4
|
(HPO:0000268)
|
Dolichocephaly |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
5
|
(HPO:0000311)
|
Round face |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
6
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
7
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
8
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
9
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
10
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
11
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
12
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
13
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
14
|
(HPO:0001362)
|
Calvarial skull defect |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
15
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
16
|
(HPO:0001601)
|
Laryngomalacia |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
17
|
(HPO:0001669)
|
Transposition of the great arteries |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
18
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
19
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
20
|
(HPO:0002566)
|
Intestinal malrotation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
21
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
22
|
(HPO:0003100)
|
Slender long bone |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
23
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
24
|
(HPO:0003363)
|
Abdominal situs inversus |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
25
|
(HPO:0004331)
|
Decreased skull ossification |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
26
|
(HPO:0004383)
|
Hypoplastic left heart |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
27
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
28
|
(HPO:0005616)
|
Accelerated skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
29
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
30
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
31
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
32
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
33
|
(HPO:0009738)
|
Abnormality of the antihelix |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
34
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
35
|
(HPO:0100736)
|
Abnormality of the soft palate |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
36
|
(HPO:0100867)
|
Duodenal stenosis |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
37
|
(HPO:0000130)
|
Abnormality of the uterus |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
38
|
(HPO:0000158)
|
Macroglossia |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
39
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
40
|
(HPO:0006660)
|
Aplastic clavicles |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
41
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
42
|
(HPO:0000047)
|
Hypospadias |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
43
|
(HPO:0012090)
|
Abnormality of pancreas morphology |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
44
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
45
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
46
|
(HPO:0000204)
|
Cleft upper lip |
Very frequent [Orphanet]
|
|
|
|
193 / 7739
|
47
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
48
|
(HPO:0002244)
|
Abnormality of the small intestine |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
49
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
50
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
51
|
(HPO:0000107)
|
Renal cyst |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
52
|
(HPO:0000078)
|
Abnormality of the genital system |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
53
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
54
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|