1
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
2
|
(HPO:0000037)
|
Male pseudohermaphroditism |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
3
|
(HPO:0000221)
|
Furrowed tongue |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
4
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
5
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
6
|
(HPO:0000293)
|
Full cheeks |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
7
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
8
|
(HPO:0000340)
|
Sloping forehead |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
9
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
10
|
(HPO:0000457)
|
Depressed nasal ridge |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
11
|
(HPO:0000482)
|
Microcornea |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
12
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
13
|
(HPO:0000647)
|
Sclerocornea |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
14
|
(HPO:0000795)
|
Abnormality of the urethra |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
15
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
16
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
17
|
(HPO:0001305)
|
Dandy-Walker malformation |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
18
|
(HPO:0001562)
|
Oligohydramnios |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
19
|
(HPO:0001737)
|
Pancreatic cysts |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
20
|
(HPO:0001743)
|
Abnormality of the spleen |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
21
|
(HPO:0001830)
|
Postaxial foot polydactyly |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
22
|
(HPO:0002084)
|
Encephalocele |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
23
|
(HPO:0002323)
|
Anencephaly |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
24
|
(HPO:0002612)
|
Congenital hepatic fibrosis |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
25
|
(HPO:0006487)
|
Bowing of the long bones |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
26
|
(HPO:0006706)
|
Cystic liver disease |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
27
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
28
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
29
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
30
|
(HPO:0010459)
|
True hermaphroditism |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
31
|
(HPO:0100732)
|
Pancreatic fibrosis |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
32
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
33
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
34
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
35
|
(HPO:0000171)
|
Microglossia |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
36
|
(HPO:0000062)
|
Ambiguous genitalia |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
37
|
(HPO:0001651)
|
Dextrocardia |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
38
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
39
|
(HPO:0012443)
|
Abnormality of brain morphology |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
40
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
41
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
42
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
43
|
(HPO:0000107)
|
Renal cyst |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
44
|
(HPO:0000479)
|
Abnormality of the retina |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
45
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
46
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
47
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
48
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
49
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
50
|
(HPO:0000033)
|
Ambiguous genitalia, male |
|
|
|
|
9 / 7739
|
51
|
(HPO:0000061)
|
Ambiguous genitalia, female |
|
|
|
|
8 / 7739
|
52
|
(HPO:0000069)
|
Abnormality of the ureter |
|
|
|
|
47 / 7739
|
53
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
54
|
(HPO:0000130)
|
Abnormality of the uterus |
|
|
|
|
86 / 7739
|
55
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
56
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
57
|
(HPO:0000180)
|
Lobulated tongue |
|
|
|
|
8 / 7739
|
58
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
59
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
60
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
61
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
62
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
63
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
64
|
(HPO:0000612)
|
Iris coloboma |
|
|
|
|
116 / 7739
|
65
|
(HPO:0000695)
|
Natal tooth |
|
|
|
|
42 / 7739
|
66
|
(HPO:0000835)
|
Adrenal hypoplasia |
|
|
|
|
23 / 7739
|
67
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
68
|
(HPO:0001195)
|
Single umbilical artery |
|
|
|
|
23 / 7739
|
69
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
70
|
(HPO:0001341)
|
Olfactory lobe agenesis |
|
|
|
|
5 / 7739
|
71
|
(HPO:0001408)
|
Bile duct proliferation |
|
|
|
|
22 / 7739
|
72
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
73
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
74
|
(HPO:0001600)
|
Abnormality of the larynx |
|
|
|
|
15 / 7739
|
75
|
(HPO:0001623)
|
Breech presentation |
|
|
|
|
16 / 7739
|
76
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
77
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
78
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
79
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
80
|
(HPO:0001746)
|
Asplenia |
|
|
|
|
19 / 7739
|
81
|
(HPO:0001747)
|
Accessory spleen |
|
|
|
|
8 / 7739
|
82
|
(HPO:0001829)
|
Foot polydactyly |
|
|
|
|
41 / 7739
|
83
|
(HPO:0001883)
|
Talipes |
|
|
|
|
12 / 7739
|
84
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
85
|
(HPO:0002085)
|
Occipital encephalocele |
|
|
|
|
20 / 7739
|
86
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
87
|
(HPO:0002308)
|
Arnold-Chiari malformation |
|
|
|
|
42 / 7739
|
88
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
89
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
|
|
25 / 7739
|
90
|
(HPO:0004639)
|
Elevated amniotic fluid alpha-fetoprotein |
|
|
|
|
2 / 7739
|
91
|
(HPO:0005343)
|
Hypoplasia of the bladder |
|
|
|
|
4 / 7739
|
92
|
(HPO:0006267)
|
Large placenta |
|
|
|
|
3 / 7739
|
93
|
(HPO:0006872)
|
Cerebral hypoplasia |
|
|
|
|
7 / 7739
|
94
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
95
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|