1
|
(HPO:0000069)
|
Abnormality of the ureter |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
2
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
3
|
(HPO:0000161)
|
Median cleft lip |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
4
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
5
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
6
|
(HPO:0000384)
|
Preauricular skin tag |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
7
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
8
|
(HPO:0000476)
|
Cystic hygroma |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
9
|
(HPO:0000490)
|
Deeply set eye |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
10
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
11
|
(HPO:0000601)
|
Hypotelorism |
Very frequent [Orphanet]
|
|
|
|
83 / 7739
|
12
|
(HPO:0000612)
|
Iris coloboma |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
13
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
14
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
15
|
(HPO:0000954)
|
Single transverse palmar crease |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
16
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
17
|
(HPO:0009380)
|
Aplasia of the fingers |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
18
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
19
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
20
|
(HPO:0001362)
|
Calvarial skull defect |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
21
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
22
|
(HPO:0001629)
|
Ventricular septal defect |
Very frequent [Orphanet]
|
|
|
|
316 / 7739
|
23
|
(HPO:0001631)
|
Atria septal defect |
Very frequent [Orphanet]
|
|
|
|
274 / 7739
|
24
|
(HPO:0001643)
|
Patent ductus arteriosus |
Very frequent [Orphanet]
|
|
|
|
228 / 7739
|
25
|
(HPO:0001789)
|
Hydrops fetalis |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
26
|
(HPO:0002101)
|
Abnormal lung lobation |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
27
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
28
|
(HPO:0002308)
|
Arnold-Chiari malformation |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
29
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
30
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
31
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
32
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
33
|
(HPO:0009738)
|
Abnormality of the antihelix |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
34
|
(HPO:0011039)
|
Abnormality of the helix |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
35
|
(HPO:0000130)
|
Abnormality of the uterus |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
36
|
(HPO:0001052)
|
Nevus flammeus |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
37
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
|
|
|
|
355 / 7739
|
38
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
39
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
40
|
(HPO:0000478)
|
Abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
41
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
42
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
43
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Frequent [Orphanet]
|
|
|
|
77 / 7739
|
44
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
45
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
46
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
47
|
(HPO:0004452)
|
Abnormality of the middle ear ossicles |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
48
|
(HPO:0009796)
|
Branchial cyst |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
49
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
50
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
51
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
52
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
53
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
54
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
55
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
56
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
57
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
58
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|